Endocrinology Flashcards
1
Q
What hormones are produced by anterior pituitary?
A
GH TSH ACTH Prolactin LH FSH
2
Q
What thyroid disorder is prolactin elevated in?
A
Hypothyroidism
3
Q
What disorder is characterized by:
Optic nerve abnormalities
A genesis or hypoplasia of the septum pellucidum or corpus callosum
Hypothalamic insufficiency
A
Septo-optic dysplasia or de Morsier syndrome
4
Q
What dental abnormality is associated with pituitary abnormalities or growth hormone deficiency?
A
Solitary maxillary central incisor
5
Q
What is the most common tumor in children to cause empty pituitary deficiency?
A
Craniopharyngeoma
6
Q
What is normal rate of height gain in children?
A
5 cm/year
7
Q
How do you calculate mid parental height for boy?
A
(Moms height + dads height + 13)/2
8
Q
How do you calculate mid parental height for a girl?
A
(Moms height + dads height - 13)/2
9
Q
What genetic syndrome has: Short stature Frontal bossing Triangular Facies Shortened incurved 5th fingers Low birth weight
A
Silver Russell syndrome
10
Q
What are potential side effects of treatment with growth hormone?
A
Slipped capital femoral epiphysis Pseudotumor cerebri Transient carbohydrate intolerance Transient hypothyroidism Scoliosis
11
Q
At what plasma osmolality does ADH normally get released?
A
12
Q
What is the most common acquired cause of nephrogenic DI?
A
Lithium
13
Q
What are treatment for nephrogenic DI?
A
Low sodium diet
Thiazide diuretic
Indomethacin
14
Q
What peptide is responsible for cerebral salt wasting?
A
Atrial natriuretic peptide
15
Q
What value can you monitor to differentiate between SIADH and cerebral salt wasting?
A
UOP - low in SIADH and high in cerebral salt wasting
16
Q
What are 3 common genetic causes for abnormal tall stature?
A
Kilnefelter
Marfan
Homocystinuria
17
Q
Which was does the lens subluxation occur in Homocystinuria?
A
Downward (they also have low IQ)
18
Q
Which sex hormone fuses the epiphyseal plates?
A
Estrogen
19
Q
What disorder has normal growth hormone levels but still rapid growth in 1st year of life?
A
Sotos syndrome
20
Q
What is first sign of puberty in girls?
A
Breast bud
21
Q
What is the first sign of puberty in boys?
A
Testes growth
22
Q
What is average length of time from initiation of puberty to menarche for girls?
A
2-2.5 years
23
Q
How much more height do you expect for girls after they started menarche?
A
3 inches
24
Q
What stage of breast development do you expect menarche?
A
Stage 4 tanner
25
What age is considered delayed male puberty?
If no secondary sex characteristics by age 14 or > 5 years have passed since beginning and completion of puberty
26
What is needed to be evaluated in all boys with precocious puberty?
Eval CNS abnormality - 25-75% will have one!
27
what hormone is the first to check in precocious puberty?
LH - should be depressed in pre pubertal kids
| Also can do GnRH stimulation test
28
What is genetic syndrome cause of precocious puberty?
McCune Albright syndrome
29
What is the most common brain lesion to cause precocious puberty?
Hypothalamic hamartoma - secretes GnRH
30
What syndrome is at increased risk of optic gliomas and precocious puberty?
NF1
31
What syndrome presents with:
Patchy hyperpigmentation with cafe au lait spots
Fibrous dysplasia of bones
Precocious puberty with vaginal bleeding
Other pituitary hyper secretion syndromes such as hyperthyroidism, Cushing, giantism
McCune Albright syndrome
32
What is premature telarache?
Isolated premature breast development in first 2 years of life - requires full work up with LH estadiol level, FSH, bone age, eval exogenous source of estrogen
33
What food has been associated with premature thelarche?
Soy
34
What medications can decrease thyroid binding globulin?
Androgens
| Glucocorticoid
35
What states increase thyroid binding globulin?
```
Pregnancy
OCPs
Estrogens
Hepatitis/biliary cirrhosis
Tamoxifen
```
36
Which conditions have increased uptake on radio iodine uptake scans?
Graves' disease
Hot nodules - toxic nodules, multinodular goiter
HCG secreting tumor
37
What causes a thyroglossal duct cyst?
Residual tract of thyroid as it descended downward during development - can have some or all of active thyroid tissue
38
What is the most common cause of congenital hypothyroidism?
Thyroid dysgenesis
39
What is the cause of TRANSIENT congenital hypothyroidism?
Iodine deficiency - rare in US
40
What are congenital findings of congenital hypothyroidism?
Wide open posterior fontanelle
Jaundice
Hypoglycemia
Macroglossia
41
What skeletal abnormality can be seen in congenital hypothyroidism?
Absence of distal femoral epiphysis
| Large cranial sutures
42
What type of formula should be avoided if giving levothyroxine?
Soy based or iron supplements bind the medication
43
What are the most common antibodies in Hashimoto's thyroiditis?
Anti thyroglobulin ab
| Anti TPO ab
44
What genetic syndrome is frequently associated with aplasia/hypoplasia of the parathyroids?
DiGeorge
45
What syndrome has:
Autoimmune hypoparathyroidism
Addison disease
Chronic mucocutaneous candidiasis?
Autoimmune polyglandular disease type 1
46
```
What disease presents wth:
Hypocalcemia, elevated PTH, high phosphorus
Tetany
Mental retardation
Short stocky children with short fingers
```
Pseudo hypoparathyroidism type 1a - missing cofactors to bind PTH so high circulating levels unable to function
47
Which form of rickets does NOT have elevated PTH?
Familial hypophosphatemic rickets
48
What is the cause of familial hypophosphatemic rickets?
Loss of phosphate in urine due to defect in kidney
49
What genetic syndrome can be associated with hypercalcemia?
Williams syndrome
50
How do you treat hypercalcemia secondary to granulomatosis disease?
Prednisone
51
Which zone of adrenal gland produces mineralcorticoid?
Glomerulosa (GFR)
52
Which zone of adrenal gland produces glucocorticoid?
Fasciculata (GFR)
53
Which zone of adrenal gland produces androgens?
Reticularis (GFR)
54
Which enzymes is responsible for salt wasting CAH?
21 hydroxylase deficiency - most common form
55
What enzyme form of CAH is associated with hypertension?
11B hydroxylase deficiency
56
What are 2 of the most common causes of ACTH deficiency in children?
1. Congenital hypopituitarism
| 2. Destruction pituitary lesion like craniopharyngioma
57
What GU anomalies is commonly found with congenital adrenal HYPOplasia?
Cryptoorchidism
58
What hormones are produced by the posterior pituitary?
ADH
| Oxytocin
59
In familial glucocorticoid deficiency is glucocorticoid, mineralcorticoid or both deficient?
Only glucocorticoid - so no salt wasting!
60
What are the three inborn errors of steroidogenesis that have adrenal insufficiency AND salt losing manifestations?
1. 21 hydroxylase deficiency
2. Lipoid adrenal hypoplasia
3. 3B hydroxysteroid dehydrogenase
61
What are the three clinical disorders associated with Type 2 autoimmune polyendocrinopathy (APS2)?
Addison's disease
Diabetes mellitus type 1
Autoimmune thyroid disease
62
What syndrome presents with:
Adrenal insufficiency
Degenerative neurologic disorder with severe dementia, loss of hearing, speech, gait
Defect in long chain fatty acids
Adrenal leukodystrophy (usually X-linked)
63
What drugs can cause a state of adrenal insufficiency?
```
Ketoconazole
Steroids
Rifampin
Phenobarbital
Phenytoin
```
64
What is the most common enzyme defect for CAH?
21 hydroxylase deficiency
65
What form of CAH has hypertension, no salt wasting, and virilization?
11B hydroxylase deficiency
66
Which metabolite in CAH 11B hydroxylase deficiency has mineralcorticoid effect and causes hypertension?
11-deoxycorticosterone (DOC)
67
Which form of CAH is milder, may present later in life, less virilization, and may or may not have salt wasting?
3B hydroxysteroid dehydrogenase deficiency (3B-HSD)
68
Is the 17 hydroxypregnenolon to 17 hydroxyprogesterone ratio high or low in 21 hydroxylase deficiency?
Low (high in 3B-HSD)
69
Regarding is virilization greater in 21 hydroxylase deficiency, is salt losing or non Salt losing forms of CAH?
Salt losing
70
What medication used to treat endometriosis has been know to virilize the female fetus?
Danazol
71
```
What complex consists of:
Blue nevi
Cardiac/skin myxomas
Sexual precocity in males
Thyroid/pituitary tumors
Melanocytes schwannomas
```
Carney complex
72
What is an abnormal cortisol level after dexamethasone suppression test?
> 5 ug/dL
73
What form of hyperaldosteronism can be suppressed by administration of dexamethasone?
Autosomal dominant form - called glucocorticoid suppressive variant
74
What disorder presents with:
Hypokalemia
Hypertension
LOW Renin, LOW aldosterone
Liddle syndrome
75
What is the primary catecholamine found in kids with pheochromocytoma?
Norepinephrine (adults it is epinephrine)
76
```
What syndrome presents with:
Webbed neck
Pectus excavatum/carinatum
Pulmonic valve stenosis/CHD
Sensorineural hearing loss
Mental retardation
Increased rates ALL/CML
Hypogonadism
```
Noonan syndrome
77
How can there be an XX male?
One X chromosome carries the SRY gene
78
What syndrome presents with:
Loss of smell
Hypogonadotropic hypogonadism
X linked disorder
Kallman syndrome
79
```
What syndrome presents with:
Hypogonadism
Obesity
Retinitis pigmentosa
Mental retardation
Polydactyly
```
Laurence moon-biedl/bardet-biedl syndrome
80
What physical exam finding on the breasts in gynecomastia indicates exogenous estrogen as cause?
Increased pigmentation of nipple and areola
81
What antifungal causes gynecomastia?
Ketoconazole
82
What kidney defect is seen with Turners syndrome?
Pelvic or horseshoe kidney
83
What tumor are girls with Turners syndrome with an associated Y chromosome at increased risk for?
Gonadoblastoma - do prophylactic gonadectomy
84
What syndrome has:
XX gonadal dysgenesis
Sensorineural hearing loss
Perrault syndrome
85
What metabolic condition can cause ovarian failure?
Galactosemia
86
What medication can reduce hirsutism in PCOS?
Spironolactone
87
What lab levels are seen in PCOS?
Elevated LH:FSH ratio
| elevated testosterone
88
What is the most common estrogen secreting tumor in children?
Juvenile granulosa cell tumor
89
What is the most common cause of female pseudohermaphroditism?
CAH
90
What disorder in MALES has:
Nephropathy
Ambiguous genitalia
Wilms tumo
Denys-Drash syndrome
91
```
What disorder has:
Pure gonadal dysgenesis
No leydig cells
Complete female phenotype at birth
No breast development or menstruation at puberty
Undifferentiated testes
```
Swyer Syndrome (SRY)
92
What disorder presents as normal phenotypic male with exception that they also have Fallopian tubes and a uterus?
Persistent Mullerian Duct Syndrome
93
What disorder presents with:
Decreased production of dihydrotestosterone (DHT)
Female phenotype at birth but virilization at puberty
5a reductase deficiency
94
What is the most common cause of male pseudohermaphroditism?
Insensitivity to androgen syndrome
95
How can you differentiate between Swyer syndrome and androgen insensitivity syndrome?
Androgen insensitivity has testes, blond vaginal pouch, no uterus or Fallopian tubes, high testosterone level
Swyer had gonadal streaks, normal vagina/uterus/Fallopian tubes, low testosterone levels
96
```
What syndrome has:
Male pseudohermaphroditism
With genital ambiguity
Mental retardation
Ptosis
Microcephaly
Syndactyly 2nd and 3rd toes
```
Smith Lemli Optiz syndrome
97
What form of smith Lemli Optiz syndrome is associated with pyloric stenosis?
Type 1
98
What form of smith Lemli Optiz syndrome is associated with Hirschprungs ?
Type 2
99
What is the karyotype of most patients with true hermaphroditism?
46XX
100
What congenital infection is associated with higher rates of DM type 1?
Congenital rubella
101
What HLA subtypes are most highly associated with DM1?
HLA-DR3 or HLA-DR4
102
What is the somogyi effect?
Hypoglycemia in the middle of the night for DM1 followed by rebound hyperglycemia
103
What disorder has a spuriously low HBA1C?
Sickle cell disease
104
What disorder has a spuriously high HBA1C?
Thalassemia
105
What is the dawn effect in DM1?
Elevated blood sugar between 5-9 am without episodes of preceding hypoglycemia - due to waning insulin effect due to GH increase at night
106
What is side effect of giving glucagon IM for hypoglycemia?
Vomiting - protect airway!
107
What is MODY?
Onset diabetes in every generation(autosomal dominant)
108
```
What syndrome presents with:
IUGR
Fasting Hypoglycemia
Post prandial hyperglycemia with profound insulin resistance
Serum insulin levels >100x normal
Acanthosis nigricans
```
Leprechaunism
| Or Donahue syndrome
