Endocrinology Flashcards by Sam Biniazan

Default pattern of differentiation of the genital system

Phenotypic female

How well did you know this?

Not at all

Perfectly

Result of presence of androgens

Male external genitals

How well did you know this?

Not at all

Perfectly

Result of presence of mullerian inhibiting factor

Regression of Female internal duct structures

How well did you know this?

Not at all

Perfectly

Sequence of male pubertal development

Testicular growth
Pubarche
Penile growth
Peak height velocity

How well did you know this?

Not at all

Perfectly

First sign of pubertal development in males

Testicular enlargement

How well did you know this?

Not at all

Perfectly

Sequence of female pubertal development

Thelarche (breast)
Pubarche
Peak height velocity
menarche

How well did you know this?

Not at all

Perfectly

Age of delayed puberty

Boys: 14 yo
Girls: 13 yo

How well did you know this?

Not at all

Perfectly

Most likely cause if delayed puberty in boys

Constitutional delay

How well did you know this?

Not at all

Perfectly

Premature adrenarche

Androgenic sexual characteristics (hair, acne, odor) without estrogenic sexual characteristics (breast, menarche)

How well did you know this?

Not at all

Perfectly

Premature thelarche

Before 8 yo

How well did you know this?

Not at all

Perfectly

Premature testicular growth

Before 9 yo

How well did you know this?

Not at all

Perfectly

Precocious puberty
Cafe-au-lait with jagged borders
Fibrous dysplasia (radiolucent regions on bone)

McCune Albright syndrome

How well did you know this?

Not at all

Perfectly

Phenotypic female
Genetic male (XY)
No male external genitalia
Blind vagina
No uterus
X-linked

Androgen insensitivity syndrome

How well did you know this?

Not at all

Perfectly

Most common cause of adrenal insufficiency in infants

Congenital adrenal hyperplasia

How well did you know this?

Not at all

Perfectly

No ambiguous genitalia in males
Excessive scrotal pigmentation

Ambiguous genitalia and No palpable testes in females
Posterior labial adhesions
Clitoral hypertrophy

Congenital adrenal hyperplasia

How well did you know this?

Not at all

Perfectly

Most common cause of CAH

21-hydroxylase deficiency

How well did you know this?

Not at all

Perfectly

First-line diagnostic test for CAH

17-hydroxyprogesterone levels
(Elevated with 21-hydroxylase deficiency)

How well did you know this?

Not at all

Perfectly

Management for CAH

Dextrose containing fluids
Mineralocorticoids (fludracortisone)
Corticosteroids (hydrocortisone)

How well did you know this?

Not at all

Perfectly

Hyperpigmentation
Hyperkalemia
Hyponatremia
High ACTH

Primary adrenal deficiency

How well did you know this?

Not at all

Perfectly

Midline defects
Low ACTH

Secondary adrenal insufficiency

How well did you know this?

Not at all

Perfectly

Diagnosing and managing primary and secondary adrenal insufficiency

AM cortisol
-if < 3, confirmed primary
-if 3-15, do ACTH stim test

ACTH stim test
-if cortisol < 18 — primary
-if cortisol > 18 — secondary

Primary - hydrocortisone + fludricortisone
Secondary - hydrocortisone (function normal)

How well did you know this?

Not at all

Perfectly

Most common cause of Cushing syndrome

Exogenous steroids

How well did you know this?

Not at all

Perfectly

Gold standard for confirming hypercorticolism

24-hour urinary free cortisol excretion

> 100mcg/day — confirms Cushing’s

How well did you know this?

Not at all

Perfectly

Work up for Cushing’s

24 hr free urinary cortisol
Or late night salivary/plasma cortisol
Or Dexamethasone suppression test

How well did you know this?

Not at all

Perfectly

Next step If urine free cortisol elevated

Serum ACTH level -if elevated — MRI head -if low — MRI adrenals

Diabetes insipidus Exophthalmus Lytic bone lesions Recurrent otitis media

Langerhans Cell Histiocytosis (Posterior pituitary disease)

Time if peak growth velocity

Around SMR 3 in boys and girls

Peak growth velocity for girls

1.5 years before menarche at SMR3

2 correct scenarios for growth hormone deficiency

Space-occupying lesion Congenital

Micropenis Hypoglycemia Short stature SOD breech presentation Jaundice

Congenital growth hormone deficiency (Typically around 6-12 mo)

Decrease in growth rate Early teen Delayed onset of puberty Bone age below chronological age

Constitutional growth delay

Best assessment for constitutional growth delay

Compare bone age to chronological age (Bone < chronological)

Disproportionate short stature

Achondroplasia

Premature closure of growth plates due to increased androgens

Premature puberty

Most important determinant for ultimate adult height

sexual maturity rating

Tall stature Macrocephaly Cognitive deficits Parents not tall

Soto’s syndrome

Most common cause of congenital hypothyroidism

Thyroid dysgenisis

Poor feeding Prolonged jaundice Constipstion Hypotonia Hoarse cry Macroglossia Umbilical hernia Large anterior fontanelle

Congenital hypothyroidism

Treatment for congenital hypothyroidism

PO levothyroxine 10-15 mcg/kg/day By 2 weeks of age mixed in any liquid but soy formulas (reduces absorption)

Low total T4 Normal free T4 and TSH

Total binding globulin deficiency X-linked No treatment

Low/normal fT4, high TSH Anti-TPO Ab

Hashimoto thyroiditis

Most common cause of hyperthyroidism

Graves’ disease

Bulging eyes Emotional lability Weight loss Sleep disturbance Lid lag

Grave disease

Treatment for Graves’ disease

Methimazole PTU - not preferred in children or adolescents (risk for hepatitis, neutropenia, drug rashes)

Irritability, tremors, tachycardia in immediate newborn period At risk for cardiac arrhythmias

Neonatal thyrotoxicosis (Low TSH, high fT4) Tx: methimazole

Single midline firm solitary mass normal thyroid function Move upward with tongue protrusion

Thyroglossal duct cyst

Not midline neck mass Abnormal thyroid function tests

Thyroid nodules Diagnostic 1st step: thyroid US

Criteria for diagnosing diabetes

HbA1c > 6.5% Random glucose > 200 Fasting glucose > 126 2-hr glucose tolerance test > 200

Top 2 triggers of DKA

Poor compliance Intercurrent illness

Screening criteria for type 2 DM

BMI > 85th percentile Family history of T2DM in 1st or 2nd degree relative High-risk race or ethnicity Signs of insulin resistance

Preferred screening test for T2DM

Fasting plasma glucose

Treatment for T2DM

1) non-pharmaceutical 2) Metformin 3) insulting if A1c > 8.5 or BG > 250

Screening for T2DM complications

At time of diagnosis and annually Eye exam Microalbuminuria Blood pressure Lipids

Metabolic syndrome

Obesity Dyslipidemia Hypertension Glucose intolerance

Causes of Hypercalcemia

Williams syndrome Ingestion (vitamin A and D, Thiazide) Skeletal disorders Hyperparathyroidism

Management for Hypercalcemia

High volume fluids Lasix EKG Calcitonin

Management for hyperparathyroidism

Calcitriol Vitamin D

Causes of Hypocalcemia

Pseudohypoparathyroidism Intake Immune deficiency (DiGeorge) Nephrotic syndrome Kidney insufficiency

Bone pain Anorexia Decreased growth rate Widening of wrist and knees Delayed eruption of teeth Bowed legs Enlarged Costcochondral junctions Softening of skull bones Elevated alk phos

Rickets Deficient mineralization of bone at growth plate

3 type of calcipenic rickets

Vitamin D deficient Vitamin D dependent Hereditary vitamin D resistant PTH is always elevated

Most common type of rickets

Vitamin D deficient

Cause of rickets in liver disease

Reduced availability of bile salts Decreased absorption of vitamin D

Cause of vitamin D dependent rickets

Inadequate renal production of 1. 25 dihydroxy vitamin D

Cause of hereditary vitamin D resistant rickets

End organ resistance to vitamin D

Management of vitamin D deficient rickets

Vitamin D Calcium

Management of vitamins D dependent tickets

Vitamin D2 1, 25 dihydroxy vitamin D

Most common form of phosphopenic rickets in children and adolescents

Renal phosphate wasting

Most common cause of rickets in industrialized countries Management

X-linked hypophosphatemic rickets Tx: phosphate supplementation 1, 25 dihydroxy vitamin D (calcitriol)

Phos low/normal Ca low/normal ALP high PTH high 25-vit D low 1, 25 vig D normal Underlying cause

Vitamins D deficient rickets Nutritional deficit or Poor UV light exposure

Phos low/normal Ca low ALP high PTH high 25-vit D normal 1, 25 vig D low Underlying cause

Vitamin D dependent rickets 1-alpha hydroxylase deficiency

Phos low/normal Ca low ALP high PTH high 25-vit D normal 1, 25 vig D very high Underlying cause

Vitamin D resistant rickets End organ resistance

Phos very low Ca normal ALP high PTH normal 25-vit D normal 1, 25 vig D normal Underlying cause

X-linked hypophosphatemic tickets Defect in tubular reabsorption of phosphate

Phos high Ca decreased ALP high PTH high 25-vit D low 1, 25 vig D low Underlying cause

Renal disease Defect in phosphate excretion

Confirmatory test for Graves syndrome

Thyroid-stimulating immunoglobulin

Single central maxillary incisor Delayed eruption of teeth

Growth hormone deficiency

Most common cardiac defect in Turner syndrome

Nonstenotic bicuspid aortic valve

SMR staging for breast development

1: no breast 2: breast and papilla elevated as small mound 3: breast and papilla with slightly larger mound beyond Arellano 4: areola and papilla form separate mound 5: mature.

SMR staging for pubic hair development in females

1: no pubic hair 2: sparse. Limited to labia major 3: darkly pigmented. Slightly curly. Spread to moms pubis 4: adult hair. Not medial thigh 5: mature. Spread to medial thigh

Central DI Optic atrophy Deafness

Wolfram syndrome

Hypoglycemia Direct hyperbilirubinemia Micropenis

Hypopituitarism

Obesity Hypogonadism Intellectual disability Retinitis pigmentosa

Laurence-moon-biedl syndrome (Bardet-biedl syndrome)

Normal growth velocity Normal bone age Family h/o short stature

Familial short stature

Normal TSH Low total T4 Normal free T4

Thyroxine-binding globulin deficiency