Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Royal College Study > Endocrinology > Flashcards

Endocrinology Flashcards

You may prefer our related Brainscape-certified flashcards:
Royal College: Emergency Medicine flashcards
1
Q

Short child, but normal growth velocity, predicted adult height = mid parental height. Bone Age = Chronological age

A

Familial Short Stature

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Short Child, normal growth velocity, delayed entry into puberty, often positive family history, predicted adult height =mid parental height, Bone age < chronological age

A

Constitutional Growth and Maturation Delay

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Two times in life where it is normal for a child to cross percentiles

A

During the first 2-3 years of life
During puberty
From 3-puberty there shouldn’t be any crossing of percentiles

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Growth hormone deficiency S/Sx

A 
Isolated. But can have many pituitary hormones affected.
Poor growth velocity
Delayed bone age
Low IGF-1, IGF BP 3
Low response on 2 GH stimulation tests
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Growth Chart of FTT

A

Weight before height

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Growth Chart GH deficiency

A

Fall off the curve after 2 years

Length before weight. (Cherubs)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Growth Chart Constitutional Growth Delay

A

low centile, but follows curve.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Growth Chart of Glucocorticoid Excess

A

Increased weight

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Male Puberty: when does peak growth occur

A

Tanner 4-5

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Testicular size pre puberty

A

<2.5cm

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Testicular size puberty

A

> 2.5cm

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Female Puberty: peak growth

A

Tanner 3

Will grow 8cm after menarche

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Order of Female Puberty

A

Thelarche
Pubic hair
Growth
Menarche

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Normal Ages of Puberty Female

A

8-13

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Normal Ages of Puberty Male

A

9-14

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Klinefelter

A

Delayed Puberty
47 XXY, 1:600 males
Puberty at normal age (penile enlargement, pubic hair)
Disproportionately small firm testes, gynecomastia, infertility
Learning and behaviour problems

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Turner syndrome Genetics

A

45X or mosaic 46XX (usually paternal origin)
Short stature if untreated (GH helps)
Gonadal failure 96% Infertility 99%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Turner S/Sx

A

Short stature
Congenital lymphedema
Horseshoe kidneys
Patella dislocation
Increased carrying angle of elbow (cubitus valgus)
Madelung deformity (chondrodysplasia of distal radial epiphysis)
Congenital hip dislocation
Scoliosis
Widespread nipples
Shield chest
Redundant nuchal skin (in utero cystic hygroma)
Low posterior hairline
Coarctation of aorta
Bicuspid aortic valve
Cardiac conduction abnormalities
Hypoplastic left heart syndrome and other left-sided heart abnormalities
Gonadal dysgenesis (infertility, primary amenorrhea)
Gonadoblastoma (increased risk if Y chromosome material is present)
Learning disabilities (nonverbal perceptual motor and visuospatial skills) (in 70%)
Developmental delay (in 10%)
Social awkwardness
Hypothyroidism (acquired in 15–30%)
Type 2 diabetes mellitus (insulin resistance)
Strabismus
Cataracts
Red-green color blindness (as in males)
Recurrent otitis media
Sensorineural hearing loss
Inflammatory bowel disease
Celiac disease (increased incidence)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Precocious Puberty Red Flags

A

Rapid Progression (BA advanced >2 years)
Predicted adult height <150cm or >2SD below Mid parental height
CNS S/Sx

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Peripheral Precocious Puberty Symptoms

A

Differs from the normal order of development
Girls: Estrogen effects
Boys: testes are small and asymmetrical

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What does this child have: isolated breast development usually at 6-24 months of age, < tanner 3, growth normal

A

Premature Thelarche (benign)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Pubic +/- axillary hard, body odour, acne, no thelarche, early DHEA secretion, growth normal. Bone age = height age

A

Premature Adrenarche

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

McCune Albright Diagnosis

A

Two or more of the following features are present:

Fibrous dysplasia
Café au lait macules, including characteristic jagged “coast of Maine” borders and tendency not to cross the midline
Hyperfunctioning endocrine disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

McCune Albright Endocrine problems

A
  1. Precocious puberty: The most common endocrinopathy is precocious puberty, which presents in girls (~85%) with recurrent estrogen-producing cysts leading to episodic breast development, growth acceleration, and vaginal bleeding. Precocious puberty in boys is much less common (~10–15%).
  2. Testicular abnormalities: Testicular abnormalities are seen in a majority (~85%) of boys.
  3. Hyperthyroidism: Hyperthyroidism occurs in approximately one-third of patients with McCune Albright syndrome.
  4. Growth Hormone Excess: Excess growth hormone secretion in approximately 10–15% of patients.
  5. Cushing’s Syndrome: In McCune–Albright syndrome, Cushing’s syndrome is a very rare feature that develops only in infancy.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Is McCune Albright GnRH dependent or independent

A

INDEPENDENT

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Prevalence of T1DM

A

1:300

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Criteria for diagnosis of diabetes

A

FPG > 7
RBG > 11.1
2hr OGTT >11.1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Neonatal Diabetes age of diagnosis

A

< 6months

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Symptoms of Neonatal Diabetes

A

FTT

DKA at presentation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

Treatment of Neonatal Diabetes

A

Sulfonylurea

Insulin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

MODY Age of onset

A

<25

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

MODY patient characteristics

A

Lean, Asymptomatic

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

MODY Genetics

A

Autosomal Dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

MODY: DKA?

A

Nope

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

MODY treatment

A

None

Sulfonylurea

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

T2DM age of onset

A

Puberty (rarely before 10)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

T2DM Genetics

A

Obesity
Family History
Ethnic Predisposition

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

T2DM DKA?

A

Yes 5-20%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

T2DM Treatment

A

Lifestyle
Metformin
Insulin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

T1DM Age of onset

A

> 6 months

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

T1DM Genetic

A

Autoimmune

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

T1DM: DKA?

A

Yes! 15-67%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

T1DM Treatment

A

Insulin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

What percentage of children in DKA have cerebral edema

A

0.5-1%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

Factors associated with development of cerebral edema

A 
Bolus of insulin prior to infusion
Early insulin administration (within first hour)
Young children in DKA
New onset diabetes
Greater degree of acidosis
Extracellular volume depletion
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

Management of Hyperglycemia

A

Total daily dose of insulin…then give 10-20% od TDD with rapid insulin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

What is the insulin sensitivity factor

A

Amount that BG will drop for every unit of rapid insulin given
Target BG of 6-8

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

T2DM: Indication for insulin + metformin

A

significant metabolic decompensation

insulin may only temporary

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

Hormonal response to hypoglycemia

A 
Decrease Insulin
Increased Glucagon
Increased Epi
Increased cortisol and GH
Symptoms
Cognition
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

Critical Sample

A 
Glucose
Insulin
C peptide
BHB
FFA
GH
Cortisol
Lactate
Extra plasma for specific tests.
First urine void for ketones
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

Idiopathic Ketotic Hypoglycemia: what is it?

A 
Substrate deficient hypoglycemia
Typical in children 1-5
Often small (<3rd centile height and weight)
Usual history of recent viral illness
Investigations normal
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q 
What is this:
Dilute urine (<300m osmol)
Increased serum osmolality (>300)
Increased serum sodium
Decreased body weight
Dehydration
A

Diabetes Insipidus

Loss of vasopressin production (central) or action (nephrogenic)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q 
What is this:
Increased Urine osmolality
Oliguria
Hyponatremia
Decreased serum osmolality
Euvolemia or hypervolemia
A

SIADH:
inappropriate release or excess ADH activity
Etiologies: neurologic disease, response illness, drugs, hypothyroid, adrenal insufficiency. Nausea, surgery, pain, psychological stress

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q 
What is this:
Increased urine output
Hyponatremia
Decreased serum osmolality
Increased Urine sodium
Increased Urine osmolality
Increased Urine output
Dehydration
A

Cerebral Salt Wasting

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
55
Q

Micropenis term infant size

A

<2.5cm stretched

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
56
Q

Clitoromegaly in term infant size

A

> 9mm

or breadth >6mm

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
57
Q

Posterior Labial Fusion Definition

A

Anogenital ration >0.5 (distance from anus to posterior fourchette, divided by distance from anus to base of phallus)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
58
Q

Most common cause of female DSD

A

CAH!!

Virilizing maternal disease, maternal androgen use, ovotesticular DSDm XX testicular DSD, gonadal dysgenesis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
59
Q

Basic labs for 46XX DSD

A

17 OHP, serum lytes, glucose, ACTH, renin, testosterone, LH, FSH

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
60
Q

46XY DSD work up

A

Testosterone, Dihydrotestosterone, LH, FSH, Mullerian Inhibiting Substance, Electrolytes, Glucose

Rare CAH in male with undervirilization: NOT ASSOCIATED WITH 17 OHP

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
61
Q

Etiology of Congenital Hypothyroidism

A

Thyroid Dysgenesis (80%)
Dyshormonogenesis (10%)
Hypothalamic/pituitary (5%)
Transient (5%): intrauterine antithyroid meds, maternal blocking antibody, iodine deficiency.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
62
Q

What thyroid etiology is this:
Diffuse (or asymmetric) enlargement of thyroid gland
Increase TSH
Positive antibodies (thyroid peroxidase, anti thyroglobulin)

A

Hashimoto’s Thyroiditis
Hypothyroidism

Autoimmune disease: thyroid gland is gradually destroyed.
Some people eventually develop hypothyroidism with accompanying weight gain, feeling tired, constipation, depression, and general pains.
After many years the thyroid typically shrinks in size.
Potential complications include thyroid lymphoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
63
Q

What Thyroid Etiology is this:
Thyrotropin Receptor Stimulating Antibody
Goiter in more than 95%
Eye disease not as common in children

A

Graves Disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
64
Q

Third most common solid tumour in children and adolescents

A

Thyroid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
65
Q

What percent of paediatric Thyroid Nodules are malignant?

A

20%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
66
Q

What is the most common paediatric thyroid cancer?

A

Papillary

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
67
Q

Graves disease treatmetn

A

First line: Methimazole
PTU: leading cause of hepatic failure…rare to use

Second Line: Radioactive iodine (can make eye disease worse)

Third Line: Surgery (<5 years, significant eye disease, very bulky disease)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
68
Q

Most common causes of primary adrenal insufficiency

A

CAH

Autoimmune destruction of adrenal cortex

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
69
Q

Most common cause of secondary adrenal insufficiency

A

Glucocorticoid withdrawal.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
70
Q

Inheritance of CAH?

A

AR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
71
Q

What is Addison Disease?

A

AI mediated destruction of the adrenal cortex

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
72
Q

S/Sx of Addison Disease

A 
Weight loss
Fatigue
Hypotension
Hyperpigmentation
Hyponatremia
Hyperkalemia
Hypoglycemia
Elevated Renin and ACTH
LOW AM CORTISOL
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
73
Q

Adrenal crisis: dosing of hydrocortisone for minor stress

A

2-3 x the replacement dose of hydrocortisone

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
74
Q

Adrenal crisis: dosing of hydrocortisone for major stress

A

100mg/m2 IV/IM stat

then dose divided as q6-8

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
75
Q

Symptoms of APS 1

A

AIRE gene mutation
CLASSIC TRIAD:
- mucocutaneous candidiasis (1st sign)
- Hypoparathyroidism (usually before puberty)
- Addison Disease (usually in adolescents)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
76
Q

Symptoms of APS 2

A

Polygenic

  • AI Thyroid Disease
  • Addison Disease
  • T1DM
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
77
Q

Etiology of Cushing Syndromes

A 
Excess glucocorticoids
Hypothalamic
Pituitary
Primary Adrenal
ectopic ACTH
Iatrogenic
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
78
Q

What is Cushing DISEASE

A

Excess Pituitary ACTH production (pituitary adenoma)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
79
Q

Cushing Syndrome < 5 years…most likely etiology?

A

Adrenal Pathology…McCune Albright Disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
80
Q

Cushing Syndrome > 5 years…most likely etiology?

A

Pituitary Disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
81
Q

How to diagnose Cushing Syndrome?

A

24 hour urinary free cortisol to see if cortisol excess is present.
Early AM cortisol is not useful

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
82
Q

Primary hormones affecting calcium metabolism

A

PTH

1, 25(OH)2 Vit D

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
83
Q

Calcium and albumin relationship

A

For every change of 10 g/L of albumin, change in calcium by 0.2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
84
Q

How is calcium affected by alkalosis?

A

Lower it!

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
85
Q

How much vitamin D should ALL infants get?

A

400 IU

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
86
Q

Which infants should get 800IU daily of Vit D?

A

High risk Vit D Deficiency kids,
From Oct- April
North of 55th parallel

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
87
Q

How much Vit D should pregnant and lactating women get?

A

2000IU

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
88
Q

Definition of Osteroporosis

A

Decreased bone strength which leads to increased risk of fractures

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
89
Q

What are clinical significant fractures?

A

2 or more long bone fractures by 10
3 or more long bone fractures by 19
1 or more vertebral compression fractures (loss >20% of vertebral body heigh at any age)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
90
Q

Secondary Osteoporosis Causes

A

Hypothyroidism
Chronic Illness
Physical inactivity
Vit D Deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
91
Q

What is this:

Serum Osm >600 with a urine Osm <300

A

Diabetes Insipidus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
92
Q

Main Role of PTH

A

To maintain serum Calcium

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
93
Q

Elevated PTH does what to calcium and Phosphate?

A

↑ Ca and ↓PO4 (kidney)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
94
Q

Decreased PTH does what to calcium and Phosphate?

A

↓ Ca and ↑ PO4 (kidney)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
95
Q

What is vitamin D’s main role?

A

absorb Ca and PO4

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
96
Q

Increased 25 OHD does what to calcium and phosphate?

A

↑ Ca and ↑ PO4 (secondary ↓ PTH)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
97
Q

Decreased 25 OHD does what to calcium and phosphate?

A

↓ Ca - secondary↑ PTH - ↓PO4

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
98
Q

Cause of hypocalcemia with LOW calcium and HIGH phosphate?

A

Hypo PTH

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
99
Q

Cause of hypocalcemia with LOW calcium and LOW phosphate?

A

Hypovit D

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
100
Q

Causes of Hypo parathyroidism

A 
DiGeorge (aplasia or hypoplasia)
Autoimmune parathyroiditis
Infiltrative lesions
Post surgical hypoparathyroidism
Post radioactive iodine to thyroid gland
PTH receptor defects
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
101
Q

Causes of Vitamin D Deficiency

A 
Reduced Intake or production
Liver
Increased catabolism
Anti-seizure medications
Renal Failure
1α-Hydroxylase Deficiency
Hereditary 1,25(OH)2 D Resistance
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
102
Q

What does the zona glomerulosa produce?

A

Aldosterone

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
103
Q

What does the zona fasciculata produce?

A

Cortisol, androgens

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
104
Q

What does the Zona reticular produce?

A

Cortisol and androgens

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
105
Q

What does the medulla produce?

A

catecholamines

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
106
Q

Glucorticoid function

A 
glucose metabolism
anti inflammatory
immunologic
ophthalmologic
thyroid
GFR
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
107
Q

Mineralocoritcoid function?

A

RAS activation:

  • Na retention
  • K excretion
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
108
Q

What is the pathophysiology of Addison Disease?

A

Anti adrenal cytoplasmic antibodies…destruction of the adrenal
May be part of APS 1 or 2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
109
Q

What is the pathophysiology of Adrenoleukodystrophy?

A

X linked
disorder of peroxisomal fatty acid beta oxidation which results in the accumulation of very long chain fatty acids in tissues throughout the body.
The most severely affected tissues are the myelin in the central nervous system, the adrenal cortex, and the Leydig cells in the testes.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
110
Q

Lab findings of Adrenoleukpdystrophy

A

High levels of VLCFA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
111
Q

Primary Adrenal Insufficiency Symptoms

A 
Hypoglycemia
Hypotension
Hyperpigmentation
Hyponatremia
Hyperkalemia

Infants: sick quicker

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
112
Q

Management of Adrenal Crisis

A 
Salt: restore volume and Na
Sugar: dextrose bolus
Steroids: Hydrocortisone 100mg/m2
Support: BP, BW, Endo, PICU
Search: for etiology
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
113
Q

Management of chronic primary adrenal insufficiency

A

Hydrocortisone 10mg/m2 div TID
Fluorinef (if aldosterone deficient)
Monitor ACTH, renin, lytes, BP, growth
Stress Dosing

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
114
Q

Secondary Adrenal Insufficiency Clues in the Neonate

A

Hypoglycemia
Lytes usually normal
Signs of associated deficiencies
(micropenis (gonadotropins), jaundice (thyroid), poor growth (GH), mid face hypoplasia and visual impairment)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
115
Q

Secondary Adrenal Insufficiency Signs/Symptoms

A

Hypoglycemia
Hypotension

NO MINERALOCORTICOID SYMPTOMS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
116
Q

Secondary Adrenal Insufficiency Treatment

A

Hydrocortisone
DO NOT NEED FLORINEF
STRESS DOSING

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
117
Q

CAH Labs

A

Lytes, glucose, gas
17 OHP, androgens, cortisol, renin, aldosterone
ACTH stimulation test

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
118
Q

CAH Management

A

Hydrocortisone, +/- florinef, +/- NaCl

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
119
Q

Cushing Syndrome Investigations

A

24 hour urinary free cortisol (elevated)

Dexamethasone Suppression Test (NORMAL would be a cortisol < 50 at 8am. would be high in Cushing)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
120
Q

Cushing Syndrome Treatments

A

Transphenoidal Surgery
Inhibitor of adrenal steroid genesis (metyrapone, ketoconazole)
Adrenalectomy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
121
Q

Adrenal Tumours Age group

A

< 10 years

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
122
Q

What % of adrenal tumours are bilateral?

A

2-10%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
123
Q

What % of adrenal tumours have endocrine function?

A

> 90%

124
Q

Catecholamine secreting tumor

A

Pheochromocytoma

125
Q

Where do most Pheochromocytomas occur?

A

90% in adrenal medulla

126
Q

What % of Pheochromocytomas are bilateral?

A

> 20%

127
Q

Associated syndromes of Pheochromocytoma

A 
NF
Von Hippel-Lindau
MEN-2A, MEN-2B
Tuberous Sclerosis
Sturge Weber
Ataxia Telangiectasia
128
Q

Management of Pheochromocytoma

A 
Surgery is high risk
Pre-op alpha and B adrenergic blockade
fluid
transabdominal exploration
prolonged follow up
screen relatives
129
Q

Muellerian Ducts are the precursors to what structures?

A

Fallopian tubes
Uterus
Upper 1/3 of the vagina

130
Q

Wolffian Ducts are the precursors to what structures?

A

Vas Deferens
Epididymis
Seminal Vesicles`

131
Q

Default for an embryo is to develop into what sex?

A

Female

132
Q

If you can palpate gonads, the child is what karyotype?

A

XY

Always palpating testis! Ovaries are not palpable

133
Q

Absent SRY

A

Phenotypically Normal Female. Only discover on karyotype

Will have ovaries

134
Q

5 alpha reductase deficiency phenotype

A

Can’t convert testosterone to DHT
External structures will not develop normally
Testis normal
No muellerian structures

135
Q

Complete AIS phenotype

A

Will develop testis
Cannot do any actions of testosterone or DHT
No migration of testis.
Muellerian structures regress because MIS expressed.
No external Male genitalia due to lack of DHT

136
Q

Mutation in MIS phenotype

A

Will develop as male, but muellerian structures will not regress

137
Q

Pan hypopit

A

micropenis

138
Q

Newborn with ambiguous genitalia.

On US, no goons in the inguinal canal. Gonads are in the abdomen. Uterus also seen. What is it?

A

CAH

139
Q

CAH accounts for what percentage of all DSDs?

A

40-50%

140
Q

Incidence of CAH

A

1:15 000

141
Q

Non classic CAH S/Sx

A 
No ambiguous genitalia
Premature pubarche
Accelerated bone age
hirsutism
menstrual irregularity
infertility
acne
142
Q

Inheritance of CAH

A

AR

143
Q

First investigation in primary amenorrhea

A

Pregnancy Test
THEN
LH/FSH, prolactin, TSH

144
Q

Definition of secondary amenorrhea

A

Menstruation stops for >3 cycles after menarche

145
Q

Incidence of Turner Syndrome

A

1:2500

146
Q

Turner Syndrome Features

A 
Shield chest
wide spaced nipples
lymphedema in the infant
growth failure
pectus excavatum
epicanthal folds
blue sclera
ptosis
low hair line
low set ears
small mandible
short stature
scoliosis
Short 4th metacarpal
147
Q

Most common cause of delayed puberty

A

Constitutional Delay

148
Q

What is functional suppression?

A

Seen in ED
Seen in situations of excess stress
Chronic Disease (IBD, Celiac)

149
Q

What is the athletic Triad

A

Low energy/Disordered eating
Amenorrhea (functional suppression of HPG axis)
Osteopenia/osteoporosis

150
Q

Treatment of athletic triad

A

Increased calorie consumption

151
Q

Three categories of delayed puberty

A

Hypergonadotropic hypogonadism
Permanent hypogonadotropic hypogonadism
Functional hypogonadotropic hypogonadism

152
Q

Primary Gonadal Failure: Boys and girls

A

1) Kilnefelter’s syndrome-males

2) Turner syndrome- females

153
Q

Hypergonadotropic hypogonadism Labs

A

Elevated LSH/FSH
Low levels of testosterone and estradiol
No pubertal development

154
Q

Karyotype of Klinefelter’s

A

47 XXY

or XY/XXY mosaicism

155
Q

Phenotype of Klinefelter’s

A 
Penile growth and pubic hair can be normal
Small Testes (<6mL)
Tall stature
Gynecomastia
Behavioural problems
156
Q

Permanent hypogonadotropic hypogonadism Labs

A

Low LH/FSH
No pubertal development
Low sex hormones

157
Q

Inheritance of Kallman’s Syndrome

A

X linked

158
Q

Pathophysiology of Kallman’s Syndrome

A

GnRH deficiency and Anosmia

159
Q

What conditions are Functional hypogonadotropic hypogonadism

A

Athletic Triad
Easting disorders
Excessive Stress
Chronic Disease

160
Q

What is the incidence of congenital heart disease in Turners?

A

30-45%

161
Q

What are the most common CHD in Turners?

A

1- Bicuspid AV
2- Coarctation of the aorta
3- Partial Anomalous Pulmonary Venous return

Prolonged QT

162
Q

Screening in girls with Turners

A

1) Hypertension screening annually
2) Sensioneural and conductive hearing loss
3) Vision screening: hyperopia and strabismus
4) Increased risk of hypothyroidism and celiac disease

163
Q

Treatment of Turner’s

A

1) Estrogen to induce secondary sexual characteristics and to achieve maximum bone density
2) Progestin to induce menstruation
3) Growth hormone once there is evidence of growth failure
4) Harvesting gonadal tissue for potential future use for fertility

164
Q

Neurological Symptoms of Hypocalcemia

A 
Chvostek sign
Trousseau Sign
Muscle Cramping
Tetany
Paresthesias
Carpopedal Spasms
Laryngospasms
Seizures
165
Q

Hypocalcemia investigation

A

PTH

166
Q

Critical Sample for hypocalemia

A 
Ionized Calcium
Phosphate
Mg
Alk Phos
Vit D
Urine Calcium
LFTs
Bun Cr
167
Q

PTH Roles in calcium metabolism

A

Stimulates kidneys and bones to reabsorb calcium

increased the synthesis of 1, 25 OHD …increases calcium gut absorption

168
Q

Where is calcium absorbed

A

duodenum and jejunum

169
Q

Hypocalcemia Signs and Symptoms

A

Common in newborns 12-72 hours

HYPERREFLEXIA (Chvostek sign, trousseau sign)

170
Q

Hypocalcemia + Dysmorphic Features

A

Di George
Albright hereditary osteodystrophy
Rickets

171
Q

Causes of Hypocalcemia

A
  1. Low PTH (low secretion or resistance)
  2. Vitamin D problem
Drugs
TLS
Rhabdomyolysis
Hypo/hypermagnesmia
Critical Illness
172
Q

Stimulus for PTH release

A

Low Calcium
High PTH
Low 1, 25 vit D

173
Q

1, 25(OH) Vit D is regulated by

A 
25 hydroxylase (liver)
1 alpha hydroxylase (kidney)...requires PTH
174
Q

PTH function

A

Increases Calcium (bone resorption, renal absorption, activating vitamin D)
Increases Renal Wasting of Phosphate
Activation of 1, 25 (OH) vit D

175
Q

Low calcium, low PTH…whats the issue?

A

HYPOPARATHYROIDISM

PTH should be high in low calcium

176
Q

Labs in Hypoparathyroidism

A 
Low Ca
High Phos
Low PTH
Normal or High Alk phos
Increased Urine Ca
Decreased 1, 25 vit D
177
Q

Acquired causes of HypoPTH

A

Post surgery
Radiation
Chronic anemia leading to iron deposition secondary to transfusions

APS 1 (AI Hypo PTH, Addison Disease, Chronic Mucocutaneous Candidiasis)
Infiltrative Disease (excessive copper deposition, sarcoid, neoplasm, amyloidosis)
Maternal HyperPTH
Hypo/Hypermagnesia

178
Q

Treatment for Hypo PTH

A

Calcium

1, 25 Hydroxy vitamin D (calcitriol)

179
Q

What is this:

PTH is high in the setting of hypocalcemia in a child with dysmorphic features

A

Pseudohypoparathyroidism

Appropriate PTH response to low calcium…but it doesn’t correct it.

180
Q

S/Sx Pseudohypoparathyroidism

A

S/Sx Hypocalcemia
Short Stature
Abnormal Bones
Fetal Death

181
Q

What is Albright hereditary osteodystrophy (AHO)?

A

Genetic cause of pseudohypoparathyroidism

Short stature, obesity, short metacarpals/metatarsals, short neck, hyperpigmentation

PTH is released appropriately, but there is no response to it (this is a receptor function and downstream signalling problem)

Suspect this condition in a short child who presents with hypocalcemia and a family history with similar features
PTH is extremely elevated

182
Q

Signs and Symptoms of Hypercalcemia

A 
painful bones
demineralization
renal stones
constipation
abdominal pain/N/V
ileus
lethargy
weakness
depression (in longstanding hypercalcemia)
mild cognitive impairment
CVS: short QT interval, bradycardia, HTN
183
Q 
What would you expect to see of these labs in hyper calcemia?
Ca:
PTH: 
Phos: 
Vit D:
Alk Phos: 
Urine calcium
A

Ca: High

PTH: Low

Phos: High or normal

Vit D: low or N

Alk Phos: low or N

Urine calcium: Increased (want to pee out the extra)

184
Q

Causes of Hypercalcemia

A

Hyperparathyroidism
Excessive calcium/vitamin D intake
Immobilization
VIP-oma
Renal failure
Other: Williams sx, cancer, low phosphate, drugs, other endocrinopathies
(hyperthyroidism, adrenal insufficiency, pheochormocytoma)

185
Q

Primary Hyper PTH

A

Primary hyperparathyroidism: PTH secretion is normal or high in the presence of high calcium

186
Q

Causes of Hyper PTH

A

Neonatal

  • Neonatal severe primary hyperparathyroidism (CasR gene loss of function)
  • Transient (secondary to maternal hypoparathyroidism or with pseudohypoparathyroidism)

Older children:
Adenoma
Hyperplasia
Cancer (rare)

Familial hypocalciuric hypercalcemia

187
Q

What is Secondary Hyperparathyroidism

A

High/normal PTH in context of low Ca

188
Q

Neonatal severe primary hyperparathyroidism: S/Sx and Treatment

A

Usually present in the first 6 mos of life with FTT, hypertonia and dehydration secondary to
polyuria

Extremely high levels of PTH and calcium

If one 1 allele affected -> benign familial hypocalciuric hypercalcemia

Urine calcium/creatinine ratio of <0.01 = consistent with this diagnosis

Tx: total parathyroidectomy

189
Q

Transient neonatal hyperparathyroidism

A

Can occur in infants born to mothers with hypoparathyroidism or with pseudohypoparathyroidism

Cause = chronic intrauterine hypocalcemia leading to hyperplasia of the fetal parathyroid glands

Usually affects the bones and resolution expected between 4-7 mos of age

190
Q

Causes of Hyper PTH in Children

A 
Parathyroid adenoma (benign) 
Gland hyperplasia

Renal/neck U/S and PET scan to identify the adenoma location

Can have hyperparathyroidism as part of a genetic syndrome/association (MEN1, which
presents with PPP tumors, (Parathyroid, Pituitary and Pancreas)

191
Q

Treatment of Hyper PTH

A

Surgery generally the best option for children

If no surgery -> bisphosphonates and calcimimetics (bridge to surgery -> suppress the production of PTH)

Complications = vocal cord paralysis and permanent hypoparathyroidism

192
Q

What is Hungry Bone Syndrome

A

Hungry bone syndrome (HBS) refers to the rapid, profound, and prolonged hypocalcaemia associated with hypophosphataemia and hypomagnesaemia

Exacerbated by suppressed PTH levels, which follows parathyroidectomy in patients with severe primary hyperparathyroidism (PHPT) and preoperative high bone turnover.

High PTH leads to leeching of calcium from bones. Once high PTH is corrected, calcium is deposited in demineralized bones rapidly, leading to severe hypocalcemia

193
Q

What is MEN 1

A

MEN1 (PPP!!) -> pituitary, parathyroid gland, pancreas

Parathyroid gland hyperplasia, pituitary tumours, insulinomas, gastrinomas

MEN gene suppressor tumour production

Tx: total parathyroidectomy (and bilateral cervical thymectomy – big risk for ectopic parathyroid glands
and thymic cancer syndrome with MEN1)

194
Q

What is MEN 2

A

MEN 2a

Parathyroid adenomas + medullary thyroid cancer, pheo

Less common in MEN2a

195
Q

What is Hyperparathyroidism jaw-tumour syndrome

A

Characterized by parathyroid adenomas and fibroosseous jaw tumours

High risk for parathyroid cancer and adenoma

Associated with Wilms tumours and polycystic kidney disease

196
Q

What is FAMILIAL HYPOCALCIURIC

HYPERPARATHYROIDISM

A

Autosomal dominant condition

Caused by mutations that lead to inactivation of the calcium sensing receptor (CASR) gene
-> don’t sense calcium levels properly

Hypercalcemia

Hypocalciuria (PTH inappropriately high or normal in context of hypercalcemia)

Normal or elevated PTH

Normal renal function

Normal phenotype (no dysmorphic features)

197
Q

Diagnosis of familial hypocalciuric hyperparathyroidism

A

Dx: 24 hour calcium/creatinine clearance, then if < 0.020 -> test for mutations in the CaSR gene

Serum calcium and creatinine drawn while hypercalcemia present and at the same time as urine calcium and creatinine is collected to allow calculation of calcium clearance

Generally do not need treatment

198
Q

Causes of Secondary HyperPTH

A

Appropriate elevation of PTH in the setting of a low calcium

Causes:
Low calcium intake
Any problem with the vitamin D pathway
Malabsorption of calcium
Kidney disease
199
Q

Symptoms of Hypothyroidism

A 
Decreased energy
Depression
Cold intolerance
Constipation
periods are longer and heavier.
200
Q

Physical Exam Findings of Hypothyroidism

A 
Goiter
Dry hair/skin
Enlarged thyroid gland
Poor relaxation phase of reflexes (delayed reflexes)
Cool extremities
Narrow pulse pressure
Over weight
201
Q

What is Hashitoxicosis?

A

*** Autoimmune Hypothyroidism may in fact present with symptoms of hyperthyroidism (clinical or subclinical)

Secondary to a massive release of stored thyroid hormone

202
Q

How do you differentiate Hashitoxicosis from Graves Disease?

A

Differentiating features from those of Graves disease (autoimmune hyperthyroidism):

absence of eye findings on exam (proptosis)

negative thyrotropin receptor-stimulating immunoglobulins.

203
Q

Most sensitive test for hypothyroidism

A

TSH

204
Q

Lab findings for primary Hypothyroidism

A

High TSH, low T4 = primary hypothyroidism

205
Q

Most likely cause for acquired hypothyroidism

A

Hashimotos (AI thyroiditis)

206
Q

Who is at increased risk of Hashimotos?

A

Increased risk with Down Syndrome, Turner Syndrome, Noonan syndrome, Celiac disease,
T1DM, alopecia areata

~70% = genetic predisposition

207
Q

Other causes of Hypothyroidism

A

Meds (especially those with iodides, or anti-epileptics)

Others: lithium, amiodarone, interferon alfa, hormone replacements

Craniospinal radiation

post Graves tx (radioactive iodine or thyroidectomy)

Nephropathic cystinosis

Langerhans cell histiocytosis

Hypothalamic or pituitary dysfunction (central hypothyroidism)

Environmental factors (that are considered triggers); infections, excess iodine consumption,
stress, smoking
208
Q

Clinical Presentation of Hypothyroidism/Hashimotos

A

Most of the time -> asymptomatic at presentation

~70% of patients will present with an asymptomatic goiter (often the first manifestation) -> non
tender, rubbery consistency

Children will often have growth failure at presentation as T4 is needed for linear growth

Moderate or severe hypothyroidism presents with non-specific symptoms: poor school
performance, slowing growth velocity (usually another early manifestation that usually goes
unnoticed), decreased energy, constipation

Weight gain (usually as a result of excess fluid not actual obesity)

Tibia myxedema

Cold intolerance

Increased need for sleep

Bradycardia

Muscle weakness

Delayed osseous maturation (delayed bone age)

Delayed or precocious puberty (precocious: +++TSH binding to FSH receptors)

Galactorrhea -> increased TRH stimulating prolactin production

Menometrorrhagia

Headaches and visions problems -> enlargement of the pituitary gland, sometimes with
enlargement of the suprasellar fossa after chronic primary hypothyroidism (secondary to
thyrotroph hyperplasia)

209
Q

Investigations for Hypothyroidism/Hashimotos

A

serum free T4

TSH

Anti-thyroglobulin antibodies

Anti-peroxidase antibodies

210
Q

Should an US be done in the work up of hypothyroidism?

A

No

211
Q

Treatment of Hypothyroidism

A

Levothyroxine

Dosed weight based, increases with age

Monitor dosing by following the free T4 and TSH every 4-6 months until growth is complete
AND 6 weeks after any dosage change

Diet: high fiber food, soy products or soy-containing formula and some medications (iron,
calcium) can affect absorption

Any intestinal malabsorption (ie. celiac, IBD), may require higher doses

212
Q

Which of the following is a cause of acquired hypothyroidism:
Sick Euthyroid Syndrome

Medications

Iodine Deficiency

A

All of them

213
Q

What is Sick Euthyroid

A

Defined as a changes in TSH and free T4 during a time of acute or chronic illness in an otherwise
healthy child without a history of thyroid disease

TSH levels can also be low in children with severe illnesses secondary to dysfunction of the HPA axis

Thought to be due to an alteration in the deiodinase enzyme activity

214
Q

What are the lab findings in sick euthyroid

A

First change is generally a decline in T3, followed by T4 (free T4) and TSH

Generally, the lower the T4, the worse the clinical outcome

Does not need to be treated

The TSH will recover first and often be above the upper limit of normal for a period of time, followed
by normalization of the free T4 and T3, then normalization of the TSH

215
Q

What is the most common cause of hypothyroidism world wide?

A

Iodine Deficiency

216
Q

List 3 meds that can cause hypothyroidism

A

Thionamides used to treat hyperthyroidism (methimazole, carbimazole, propylthiouracil)

Side effects =

  • liver failure (propylthiouracil) – not recommended in kids
  • Hypotension

Lithium – generally does not require treatment

Amiodarone – contains 2 iodine molecules

217
Q

Lab findings on Subclinical Hypothyroidism

A

High TSH, normal T4

218
Q

What is the outcome for subclinical hypothyroidism

A

An elevated TSH in the context of a normal T4 (“compensated”)

Outcome -> most children go back to a euthyroid state with only a minority continuing on to
develop hypothyroidism

Increased risks = goiter, antithyroid antibodies, increasing TSH levels over time

219
Q

In someone with subclinical hypothyroidism, who would you treat?

A

Treatment:

TSH < 10: repeat and screen for antibodies, repeat is often normal

TSH 10-20: repeat level x 1 then treat

TSH >20: treat with thyroxine

Consider treatment for children with a large goiter, associated conditions such as T1DM, high TSH
levels, or symptoms of hypothyroidism

220
Q

Low TSH Low T4 is what kind of hypothyroidism

A

Central

221
Q

High TSH, low T4 is what kind of hypothyroidism

A

Primary

222
Q

Causes of Central Hypothyroidism

A

Hypopituitarism (genetic or secondary to hypothalamic or pituitary tumours)

  • Craniopharyngiomas
  • Pituitary adenomas
  • Rathke cleft cysts
  • Empty sella syndrome
  • Surgery or irradiation
  • Meningiomas

Trauma

Genetic

Autoimmune

  • Lymphocytic hypophysitis
  • Polyglandular autoimmune syndrome

Infiltrative

  • Sarcoidosis
  • LCH

Infections
-TB

223
Q

Most common congenital endo disorder

A

Hypothyroidism

224
Q

What is the most common cause of congenital hypo thyroid.

A

Most cases (~85%) are due to thyroid gland dysgenesis
- Abnormal development of the thyroid gland leading to agenesis, thyroid hypoplasia or an ectopic
thyroid gland

Usually sporadic or idiopathic, most of the time there is no genetic link

~10-15% of cases = dyshormonogenesis
- the thyroid doesn’t make hormones effectively -> decreased production secondary to defects in the enzymes and ion transporters

autosomal recessive condition

225
Q

Signs and Symptoms of congenital hypothyroidism

A

Most are normal at birth!!!

(This is because of the partial trans placental crossing of maternal T4, which makes up about 1/3 of the normal
level for newborns)

Usually normal birth weight and length, but can have macrocephaly secondary to myxedema of the
brain

Other symptoms can present at 2-4 weeks including:

Large fontanelles
Prolonged physiologic jaundice
Feeding difficulties secondary to lethargy, choking, poor appetites
Hypothermia
Edema of the face, eyelids, extremities and genitals
Coarse facial features
Late findings: macroglossia, poor suck, developmental delay, umbilical hernia, increasing lethargy,
increasing failure to thrive

By 3-6 mos, the clinical manifestations are all present

226
Q

Lab work for congenital Hypo thyroids

A

Newborn screen: TSH +/- T4 after day 2 -> elevated TSH, low/normal T4 (TSH after the first week should be less than 10 mIU/L)

Primary TSH method detects congenital hypothyroidism secondary to dysgenesis or dyshomonogenesis but misses central hypothyroidism

Central hypothyroidism may be missed if only use TSH for screening (better with a T4/TSH approach)

T4 test will detect overt CH, central hypothyroidism, hypothyroxinemia in sick/premature babies, and
hyperthyroxemina but will miss compensatory hypothyroidism (with normal T4 but elevated TSH)
and transient hyperthyrotropinemia (iodine defiency)

Need to confirm the positive screen with a repeat TSH, T4 and diagnostic scan (uptake scan, can confirm dysplasia)

If no uptake -> U/S to see if the thyroid is actually there

Dyshormonogenesis -> enlarged gland with increased uptake

227
Q

Screen positive for Hypothyroidism …next step?

A

TREAT. Do not delay for repeat testing.

228
Q

What is premature thelarche

A
  • benign condition
  • seen in females, usually before the age of 2.
  • isolated breast development, with no other
    signs of puberty.

Growth is not accelerated, and bone age is normal.

Extensive investigation is not recommended.

If seen in <2 years of age, there is generally regression of breast tissue.
If >2 years, regression is not as common. Girls >2 years of age should be monitored, as they could progress to
central PP.

229
Q

What is premature adrenarche

A
  • early maturation, or exaggerated response to
    physiologic maturation of adrenal gland.
  • presents as pubarche (pubic hair) with no
    other signs of puberty.
  • Bone age is normal.

DHEAS can be mildly elevated.

Extensive investigation is not needed as long as there
are no other signs of puberty or signs of
virilization.

Children should be monitored as they can progress to central PP

230
Q

Three causes of peripheral precocious puberty

A

Peripheral PP is gonadotropin independent. The HPG
axis is not active. Here the sex steroids are either:

Androgens that are coming from the adrenal gland
(testosterone can be converted to estrogen by
aromatase)

Sex steroids are from the gonads, but are not being
driven by LH/FSH. Instead, the hormone production
is stimulated by bHCG secreting tumors, activating
mutations of LH receptor, or gonadal tumors that are
independently secreting sex hormones

Exogenous hormones (ingestion of OCP, tea tree oil,
etc)
231
Q

What is the normal age of puberty for a girl?

A

Normal puberty begins between 7 and 13
years in girls

Normal puberty does not start until age 8 in
Caucasian girls, but may start as early as 7 in
black and hispanic girls.

232
Q

What is normal age of puberty for males?

A

between 9 and 14 in boys

233
Q

Order of puberty in females

A

Breast budding, pubic hair, growth spurt,
menarche

Girls growth 5-7cm after menarche.

Pubic hair development will precede breast
budding in 10-15% of girls.

234
Q

Order of puberty in males

A

Testicular growth, pubic hair, penile growth,
growth spurt

Testes >4 mL

235
Q

What is a worrisome feature that would make you suspicious of true precocious puberty?

A

A growth spurt associated with symptoms of puberty is
worrisome for true precocious puberty.

GH secretion increases during puberty in response to sex steroids.
Approximately half of pubertal growth spurt is due to sex hormone effects on epiphyseal growth and half due to GH.

236
Q

What must you look for on physical exam for a ?precocious puberty

A

Visual field testing, tanner staging by inspection
and palpation, skin inspection for café au lait
spots, and inspection of her limbs/MSK

237
Q

What causes of precocious puberty have cafe au last spots?

A

Café au lait spots are seen in both Neurofibromatosis and McCune Albright syndrome.

Fibrous dysplasia of bone is seen in McCune Albright, an important syndrome to rule out in PP.

238
Q

What is the McCune Albright syndrome triad?

A

café au lait spots
gonadotropin independent precocious puberty
fibrodysplasia

239
Q

How does McCune Albright present?

A

In girls, the PP often presents as vaginal bleeding followed by breast budding, without pubic hair.

In boys, it can be bilateral (or unilateral) testicular enlargement with penile enlargement, scrotal rugae, and body odor.

240
Q

Investigations for premature adrenarche

A

A bone age
Benign premature adrenarche and benign premature thelarche do not cause significant advancement in bone age.

Central or peripheral precocious puberty
would result in advancement of the bone age.

DHEAS is the main androgen secreted by the adrenal glands. A mild increase above normal is expected in benign premature adrenarche.

Head imaging is indicated to investigate central PP.

GnRH stimulation test is the gold standard to assess function and activity of the HPG axis….only if true signs and symptoms of PP.

Pelvic and gonadal US is useful to investigate for ovarian cysts.

241
Q

How does a GnRH stimulation test work for differentiating central versus peripheral precocious puberty?

A

If it’s peripheral, the LH doesn’t rise. Because the only way you have LH surge/rise, is if you’ve had GnRH priming (by many many pulses) before

So if you are central, you have these pulses going, and you will respond

Therefore a positive GnRH stimulation test indicates central precocious puberty, a negative stimulation indicates peripheral (gonadotropin independent) PP.

242
Q

What is the triad of PCOS?

A

Polycystic ovarian syndrome is characterized by the triad of oligo-ovulation or anovulation (menorrhea), clinical or biochemical hyperandrogenism, and ovarian cysts.

The pathophysiology of PCOS is not completely understood. It is associated with obesity, insulin resistance, and puts women at increased risk of metabolic syndrome and type II diabetes.

243
Q

What is the treatment of PCOS?

A

Treatment is with hormonal contraception to regulate menstruation and oppose androgen action, and insulin sensitizing agents such as metformin.

244
Q

What are the complications of PCOS?

A

Main complications of PCOS are metabolic syndrome, type II diabetes (patients must be screened for this), endometrial cancer (secondary to periods of anovulation), and fertility issues.

245
Q

When do boys typically develop pubic hair

A

Pubarche characteristically follows, with most boys attaining Tanner 3 pubic hair ~1-1.5 y after onset of puberty.

The growth spurt occurs during genital
stages 3 and 4, during which time spermarche occurs.

The onset of facial hair and voice change, occur during genital stage 4.

246
Q

What are some good clues in males for central PP?

A

Growth spurt and testicular growth.

247
Q

What are clues for peripheral PP in males?

A

Small testes with secondary sex characteristics

248
Q

What are causes of central PP?

A

CNS tumors, trauma, CNS infection,
hydrocephalus, CNS radiation, chemotherapy, and
idiopathic are all causes of central PP
(gonadotropin dependent).

249
Q

What are causes of peripheral PP?

A

Peripheral (gonadotropin independent) PP can be
caused by gonadal tumors, McCune Albright
Syndrome, Familial Testotoxicosis (activating
mutation of the LH receptor), CAH, Adrenal
tumors, HCG producing tumors (germ cell tumors,
hepatoma), and primary hypothyroidism.

250
Q

What is Familial Testotoxicosis?

A
  • gonadotropin independent (peripheral) PP
  • Caused by an activating mutation in the LH receptor gene.
  • autosomal dominant manner.
  • generally presents between 2 and 4 years
    of age.

Patients have accelerated growth, early development of secondary sexual characteristics.

Patients have increased levels of androgens
(testosterone) with low levels of LH and a
negative GnRH stimulation test.

251
Q

Can primary hypothyroidism cause PP

A

High levels of TSH can cause increase in FSH and
also potentially cross react with gonadotropin
receptors, leading to breast development in girls
and testicular enlargement in males. An increase
in somatic growth is not seen.

252
Q

How do you calculate mid parental height?

A

Midparental height is calculated as follows:

Boys = maternal height in cm + 13 cm +
Paternal height in cm / 2

Girls = maternal height in cm + paternal height
in cm -13cm / 2

Conversion from inches to cm is: Inches x 2.54
= cm

253
Q

When does growth occur with respect to tanner staging of a boy and girl?

A

Half of pubertal growth spurt is due to sex hormone
effects on epiphyseal growth and half due to GH.

Females peak in their growth spurt ~tanner stage 3, males at tanner stage 3-4, which tends to be ~2 years later in males

Females peak growth velocity is 8.25 cm/year,
males is 9.5cm/year. The combo of longer period of prepubertal growth + greater growth velocity explains the greater height in males.

Females grow an average of 5-7 cm after menarche.

Females achieve 99% completion of growth at bone age 15, males at bone age 17. Years of growing left can be estimated by doing a bone age.

254
Q

Is PP more common in males or females?

A

Precocious puberty is 5-10x more common in females than males.

255
Q

What is the most common cause of PP in females?

A

Idiopathic central PP accounts for 90% of PP in females, but only 50% in males.

256
Q

Work up of male with PP?

A

Bone age, GnRH stimulation test, bHCG, MRI,

TSH

257
Q

If mass found on MRI in kid with PP…what investigations should be done?

A

CRH/ACTH: AM cortisol, ACTH stimulation test

GH: following growth, GH stimulation test if
decreased growth velocity, or hypoglycemia

Prolactin: Prolactin level

ADH: electrolytes, monitor for polyuria/polydipsia

TRH/TSH: TSH and fT4 level

258
Q

When is gynecomastia normal?

A

It is seen in up to 90% of newborn males, secondary to maternal estrogens and bHCG.
Neonatal physiologic gynecomastia resolves in the neonatal period.

A second spike is seen
during puberty, when up to 50-70% of pubertal males will develop gynecomastia. 90% will self resolve in 1-3 years.

259
Q

Best treatment for central PP?

A

Treating with a long acting GnRH agonist
(lupron) takes away the pulsatile rhythm, and thus inhibits
gonadotropin secretion, arresting puberty. Most patients
have regression of secondary sexual characteristics.

Removal of the hamartoma will decrease any abnormal
GnRH secretion, however it will not arrest puberty. The
HPG axis has already been primed and has entered a
pubertal state.

260
Q

What side effects are associated with PP?

A

Decreased final adult height

Early drug experimentation and onset of
sexual activity

Psychological distress

Mild sleep disturbance

261
Q

Xray for Rickets findings

A

thickened growth plate

frayed metaphyseal edge

Cupping

Osteopenia

Widening of metaphysis

262
Q

What is Rickets?

A

Inadequate mineralization of the growth plate cartilage and osteoid despite growth -> thickened growth plate with an increased circumference which increased bone width

Overall softening of the bones, making them easier to bend with little force

Most common cause: vitamin D deficiency

263
Q

What investigations do you need to complete the work-up for suspected rickets?

A

Calcium, Phos, Mg

CBC, LBC

25-hydroxyvitamin D

1,25-hydroxyvitamin D

Alk Phos

Urine Ca/Cr ratio

Parathyroid hormone (PTH)

264
Q

Expected Lab results in Rickets for the following:

Calcium
Phosphorus
Alk Phos
PTH
25-hydroxyvitamin D 
1,25-dihydroxyvitamin D
BUN/Cr
Electrolytes
Urine Sample
A

vCalcium: low (can be normal in early and/or mild disease. The elevated PTH will act to
keep calcium normal intially)

Phosphorus: low

Alk Phos: high

PTH: high

25-hydroxyvitamin D (low)

1,25-dihydroxyvitamin D (low or normal (normal in early disease, will become low as 25
vitamin D stores are used up))

BUN/Cr: normal

Electrolytes: normal

Urine Sample: can be helpful for determining a urinary excretion of calcium and can
demonstrate the presence of glycosuria or protein which would be suspicious for Fanconi
syndrome.

265
Q

What do you test to look at patients via D status

A

25-hydroxyvitamin D is the major circulating form and storage form of vitamin D and is the gold standard for determining a patient’s vitamin D status, as there is little
regulation of that step in the pathway.

266
Q

Treatment for Vit D Deficient Rickets

A

There are 2 ways to treat:

  • a significantly large amount of vitamin D (300,000-600,000 IU) PO or IM as multiple doses over 1 day.
    (This is the ideal treatment for a patient who may not comply with a daily dose)

Daily (high) dose of vitamin D (2000-5000 IU per day) over a period of 4-6 weeks.

Continue supplementation after acute treatment - stand-alone supplement or part of a multivitamin.

267
Q

What are the recommendations for Vit D intake for children and adolescents?

A

Breastfed children: 400 IU/day, older children: 600IU/day

If living in region of poor vit D Increase from 600 IU/day to 800 IU/day

268
Q

Why does rickets of prematurity happen?

A

Inadequate calcium and phosphorus to meet growth requirements, leading to demineralization of bones and pathologic fractures

80% of maternal calcium and phosphate is transferred in the third trimester, thus born prematurely misses this key time
Supplemented breastmilk infant formula generally do not have enough calcium and phosphorus for premature babies – need additional supplementation

Additional risk factors = cholestatic jaundice, prolonged NICU admission, prolonged use of TPN, medications (diuretics, steroids) and soy formula, multip

269
Q

Best marker for Rickets Recovery?

A

ALP. Marker of bone turnover

270
Q

How do you differentiate between the two types of Vitamin D dependent Rickets?

A

You can differentiate the 2 types of VDDR by looking at the 1,25 hydroxyvitamin D!

271
Q

What is Vitamin D Dependent Rickets type 1

A

Deficiency in 1-alpha hydroxylase -> can’t convert 25-hydroxyvitamin D into 1,25 hydroxyvitamin D

normally present during the first 2 years of life with the classic features of rickets

Important differences:

1,25 hydroxyvitamin D level is low as PTH will be high and should activate 1-alpha hydroxylase to convert it

Do not respond to conventional treatment of vitamin D deficient rickets

NEED TO TREAT WITH CALCITRIOL

272
Q

What is Vitamin D Dependent Rickets type 2

A

Early onset (within a few months of birth) of hypocalcemia and severe rickets

Hypocalcemia is due to decreased intestinal resorption as this depends on the VD receptor

Hypotonia and muscle weakness

Severe dental caries

Alopecia (approx. 50-70% of pts, associated with a more severe form)

Difference from VDDR-1: extremely high 1-25 Vitamin D as it’s a receptor problem, so the feedback loop senses persistently low vitamin D and attempts to make more!

273
Q

Treatment of Vitamin D Depentdent rickets 2

A

Extremely high doses of vitamin D (in an attempt to overcome the resistance
Alopecia sadly does not get better

274
Q

Russel Silver Physical Characteristics

A

IUGR
Characteristic facies (normal head circumference, blue
sclerae, small triangular facies, a high forehead that tapers to a small jaw, micrognathia, prominent nasal bridge, and down-turning corners of the mouth)
Growth asymmetry,
Growth retardation.

Birth weight is generally <2SD of the mean, with normal head size
Babies are at risk for hypoglycemia.

Approximately 50% of children will have cognitive
impairment.

275
Q

What is Madelung Deformity?

A

Madelung deformity is a deformity of the
wrist that is characterized as radial and palmar
angulations of the distal aspect of the radius.
The distal radius stops growing early. The ulna
keeps growing, dislocates, and forms a bump.

It is seen in Leri-Weill mesomelic dwarfism
(dyschondrosteosis), which is caused by a
mutation in the SHOX gene, and also in Turner
Syndrome.

276
Q

How do you define constitutional growth delay?

A

1) slowing growth velocity during the first 2 years after birth, typically with both weight and height
crossing growth percentiles downward;

2) a normal or near-normal growth velocity, with height below but parallel to the 5th percentile during
prepubertal years;

3) delayed BA and pubertal maturation;
4) adult height usually within the normal range and within genetic potential

277
Q

For what conditions is GH indicated for?

A
  1. Growth hormone deficiency documented by 2 GH stimulation tests
  2. Turner Syndrome
  3. SHOX (short homeobox gene) deficiency
  4. Selected syndromic causes of short stature (on a case by case basis)
  5. Growth retardation secondary to chronic renal failure and RTA.
278
Q

Which of the following cancer treatments can
affect future growth?

Cranial radiation

Spinal radiation

Corticosteroids

Resection of brain tumor

A

All of them!!

Cranial radiation can affect the production of pituitary hormones in the future. Deficiencies in growth hormone and TSH will lead to decreased growth and short stature. If the neck is included in the radiation field, there is a risk of thyroid cancer and also primary hypothyroidism. Thyroid hormone is required for growth.

Spinal radiation can cause damage to growth plates in the vertebrae and decreased growth of the spine. As growth of the extremities in the case of normal, this causes disproportionate short stature. With a decreased Upper:lower segment ratio. Arm span would be greater than height.

High dose corticosteroids can decrease growth velocity.

Cranial surgery, depending on the site, can cause deficiencies in the pituitary hormones mentioned above.

279
Q

What does the hypothalamus release?

A

The hypothalamus produces and releases releasing and inhibiting hormones (GHRH, GnRH, TRH, and CRH), that act on the anterior pituitary.

280
Q

What does the anterior pituitary release?

A

The anterior pituitary makes and releases hormones (growth hormone (GH), leutinizing hormone (LH), follicular stimulating hormone (FSH), thyroid stimulating hormone (TSH), and adrenocorticotropic hormone (ACTH))
that act on target organs.

281
Q

What does the posterior pituitary release?

A

Antidiuretic hormone (ADH) and oxytocin are the 2 hormones produced by neurosecretion in the hypothalamic nuclei and released from the posterior pituitary.

282
Q

What are counter regulatory hormones?

A

Growth hormone, glucagon, epinephrine, and cortisol are termed “counter regulatory hormones”.

Blood glucose concentrations are normally kept in
a tight range by the action of these hormones and insulin.

Insulin is an anabolic hormone that shifts glucose into cells and stimulates glycogen synthesis.
The counter regulatory hormones are released in
response to low serum glucose levels, and also during the stress response.

They act in concert to increase serum glucose levels by glycogenolysis, gluconeogenesis, and mobilizing amino acid and fat stores to contribute to gluconeogenesis.

Growth hormone specifically acts to inhibit glucose
uptake by muscles, and to activate lipolysis, thereby providing glycerol for gluconeogenesis and fatty acids for ketogenesis. Children with growth hormone deficiency are therefore at risk for hypoglycemia.

283
Q

How do you accurately assess a GH level

A

Growth hormone is secreted in a pulsatile pattern in response to GHRH
random GH level may not be detectable, and therefore is not useful.

To establish a definitive diagnosis of GH deficiency, one
must demonstrate sub normal GH levels during a GH stimulation test on two separate occasions.

284
Q

What is central DI?

A

Central DI is caused by decreased production of ADH by the posterior pituitary.

285
Q

What is peripheral/nephrogenic DI?

A

Nephrogenic DI is caused by a failure of ADH/receptor interaction in the kidney.

286
Q

What are the risks associated with GH?

A

pseudotumor cerebri, slipped capital femoral epiphysis, gynecomastia, and worsening of scoliosis.

287
Q

What Tanner stage is this:

testicular volume less than 1.5 ml; small penis

A

1 (prepubertal)

288
Q

What tanner stage is this?

testicular volume between 1.6 and 6 ml

A

2

289
Q

What tanner stage is this?

Skin on scrotum thins, reddens and enlarges; penis length unchanged (9–11

A

2

290
Q

What tanner stage is this?

testicular volume between 6 and 12 ml

A

3

291
Q

What tanner stage is this?

scrotum enlarges further; penis begins to lengthen

A

3

292
Q

What tanner stage is this?

testicular volume between 12 and 20 ml

A

4

293
Q

What tanner stage is this?

scrotum enlarges further and darkens; penis increases in length

A

4

294
Q

What tanner stage is this?

testicular volume greater than 20 ml

A

5

295
Q

What tanner stage is this?

adult scrotum and penis (14+)

A

5

296
Q

What tanner stage is this? (breasts)

no glandular tissue: areola follows the skin contours of the chest

A

1

297
Q

What tanner stage is this?

breast bud forms, with small area of surrounding glandular tissue; areola begins to widen

A

2

298
Q

What tanner stage is this?
breast begins to become more elevated, and extends beyond the borders of the areola, which continues to widen but remains in contour with surrounding breast

A

3

299
Q

What tanner stage is this?
increased breast sizing and elevation; areola and papilla form a secondary mound projecting from the contour of the surrounding breast

A

4

300
Q

What tanner stage is this?

breast reaches final adult size; areola returns to contour of the surrounding breast, with a projecting central papilla.

A

5

301
Q

What tanner stage is this?

no pubic hair

A

1

302
Q

What tanner stage is this?
small amount of long, downy hair with slight pigmentation at the base of the penis and scrotum (males) or on the labia majora (females)

A

2

303
Q

What tanner stage is this?

Hair becomes more coarse and curly, and begins to extend laterally

A

3

304
Q

What tanner stage is this?

adult-like hair quality, extending across pubis but sparing medial thighs

A

4

305
Q

What tanner stage is this?

hair extends to medial surface of the thighs

A

5

306
Q

What tanner does peak growth happen for males?

A

4-5

307
Q

What tanner stage will peak growth happen for females?

A

3

Royal College Study (13 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions