Endocrinology

Question 1

For treatment of DKA, when sugars correct to 250-300s, what should the fluids be changed to?

Answer 1

Change from NS fluids to dextrose containing fluids with potassium to avoid hypoglycemia and hypokalemia.

Question 2

Dysfunction of the SRY gene is related to which disorder?

Answer 2

Sex-determining Region on the Y-chromosome; if issues with gene, going to be phenotypically female (Swyer syndrome)

Question 3

What age groups would you expect to see premature thelarche?

Answer 3

Within the first two years of life

Question 4

What labs do you obtain to work up premature thelarche?

Answer 4

Estradiol, FSH/LH, and bone age (evaluate for signs that patient may be undergoing puberty very early).

Question 5

True or False about T1DM.

(1) T1DM most commonly occurs in the AA population.
(2) T1DM usually presents during the summer months.

Answer 5

(1) False– most common in Caucasians, then AA.

2) False– mostly occurs during the Fall/Winter (preceding viral illness usually

Question 6

Name the disorder:
Genotype XY though with undervirilized genitalia (looks female). Normal testosterone level with elevated testosterone: DHT (dihydrotestosterone). May be mistaken for female and then at puberty, have penile and scrotal enlargement.

Answer 6

5a-reductase deficiency (converts testosterone to DHT).

Question 7

Critical labs to obtain during hypoglycemic episode?

Answer 7

Need to rule out hyperinsulinism, hypopituitarism, isolated low growth hormone, adrenal insuffiency (cortisol, insulin, ketones, growth hormone, glucose)

Question 8

Why is Beckwith-Wiedemann associated with neonatal hypoglycemia?

Answer 8

Hyperinsulinism due to diffuse islet cell hyperplasia related to genetic defects on chromosome 11

Question 9

Sotos syndrome?

Answer 9

Overgrowth syndrome where kids have long face with large forehead and are very tall for their age, pointed chin, learning disabilities

Question 10

In PCOS, (LH:FSH vs FSH:LH) ratio can be 2:1 or 3:1?

Answer 10

LH:FSH ratio; the LH levels are already so high that there isn’t a notable surge stimulating ovulation to occur

Question 11

Name the disorder: Short stature and small hand/feet bones that is seen across many generations of the family. Low Ca/High Phos/Very high PTH.

Answer 11

Pseudohypoparathyroidism. PTH resistance at the level of the kidney, cannot retain Ca and excrete Phos.

Question 12

Name the disorder: low Ca/low Phos.

Answer 12

Vitamin D deficient rickets

Question 13

Name the disorder: Short stature and small hand/feet bones that is seen across many generations of the family. Normal Ca/Phos.

Answer 13

Pseudopseudohypoparathyroidism.

Question 14

Name the disorder in a newborn: recurrent hypoglycemia, micropenis and direct hyperbilirubinemia.

Answer 14

Congenital growth hormone deficiency– need enough IGF-1 for proper penile development in utero.

Question 15

Follow up screening for patient with T1DM?

Answer 15

5 years after diagnosis:
Microalbuminuria (yearly)
Ophthalmologic follow up (yearly once older than 10 y/o)
Thyroid: at diagnosis, and then every 1-2 years
Celiac: at diagnosis (antibodies) and then only with symptoms

Question 16

True or false. In familial short stature, bone age is delayed.

Answer 16

False. Bone age would be normal.

Question 17

Growth Hormone treatment has an associated increase risk in sudden death when used to treat patients with what condition?

Answer 17

Prader-Willi syndrome

Question 18

Criteria for diagnosis of diabetes?

Answer 18

(1) Random glucose >200 and positive symptoms of diabetes (polyuria/polydipsia/weight loss)
(2) Fasting glucose >126
(3) HbA1c > 6.5%
(4) Plasma glucose >200 measured 2 hours after 75g glucose load

Question 19

Kallmann Syndrome

Answer 19

Anosmia + hypogonadotropic hypogonadism (failure of gonadotropin producing neurons to migrate) + mirror movement issues (involuntary movements mirroring voluntary movements on the contralateral side)

Question 20

What is associated with the combination of direct hyperbilirubinemia and micropenis?

Answer 20

Think along hypopituitarism of some sort (whether that is panhypopit or isolated growth hormone deficiency); if missing the corpus callosum, think of septo-optic dysplasia.

Question 21

What is another name for Mayer-Rokitansky-Kuster-Hauser Syndrome?

Answer 21

Mullerian agenesis

Question 22

Name the disorder: 4 y/o F presenting with premature menarche, breast budding and a cafe-au-lait spot with jagged margins that in a segmental distribution over the back stopping at midline. What other radiographic finding is also identified in this disorder?

Answer 22

McCune-Albright Syndrome; cells that autonomously activate and develop apart from the rest of the body; fibrous dysplasia of the bones is also seen

Question 23

Name the disorder: 7y/o M with history of difficulty concentrating/diagnosed with ADHD, presenting with new onset seizures. Patient found to have symmetric periventricular demyelination.

Answer 23

X-linked adrenoleukodystrophy (X-ALD); impaired beta-oxidation and breakdown of fatty acids leading to accumulation of VLC FAs. Deposition of FAs in the adrenal glands and cerebral white matter. Can lead to blindness, ataxia, etc.

Question 24

True or False. 11 beta-OHylase deficiency can prevent with female virilization and hypertension and hyperkalemia.

Answer 24

True. 11 beta-OHylase prevents conversion of 11-deoxycortisol to cortisol. Even though this enzyme should affect the mineralocorticoid pathway too, 11-deoxycortisol from the glucocorticoid pathway does have mineralocorticoid receptor activity, so will cause hypertension, hypernatremia, hypokalemia.

Question 25

True or False. Sertoli cell and androgen insensitivity syndrome can present with gynecomastia and other female secondary sex characteristics.

Answer 25

True: having too much testosterone will cause the body to convert it to estrogen using aromatase enzyme.