Endocrinology Flashcards
For treatment of DKA, when sugars correct to 250-300s, what should the fluids be changed to?
Change from NS fluids to dextrose containing fluids with potassium to avoid hypoglycemia and hypokalemia.
Dysfunction of the SRY gene is related to which disorder?
Sex-determining Region on the Y-chromosome; if issues with gene, going to be phenotypically female (Swyer syndrome)
What age groups would you expect to see premature thelarche?
Within the first two years of life
What labs do you obtain to work up premature thelarche?
Estradiol, FSH/LH, and bone age (evaluate for signs that patient may be undergoing puberty very early).
True or False about T1DM.
(1) T1DM most commonly occurs in the AA population.
(2) T1DM usually presents during the summer months.
(1) False– most common in Caucasians, then AA.
2) False– mostly occurs during the Fall/Winter (preceding viral illness usually
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.
5a-reductase deficiency (converts testosterone to DHT).
Critical labs to obtain during hypoglycemic episode?
Need to rule out hyperinsulinism, hypopituitarism, isolated low growth hormone, adrenal insuffiency (cortisol, insulin, ketones, growth hormone, glucose)
Why is Beckwith-Wiedemann associated with neonatal hypoglycemia?
Hyperinsulinism due to diffuse islet cell hyperplasia related to genetic defects on chromosome 11
Sotos syndrome?
Overgrowth syndrome where kids have long face with large forehead and are very tall for their age, pointed chin, learning disabilities
In PCOS, (LH:FSH vs FSH:LH) ratio can be 2:1 or 3:1?
LH:FSH ratio; the LH levels are already so high that there isn’t a notable surge stimulating ovulation to occur
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.
Pseudohypoparathyroidism. PTH resistance at the level of the kidney, cannot retain Ca and excrete Phos.
Name the disorder: low Ca/low Phos.
Vitamin D deficient rickets
Name the disorder: Short stature and small hand/feet bones that is seen across many generations of the family. Normal Ca/Phos.
Pseudopseudohypoparathyroidism.
Name the disorder in a newborn: recurrent hypoglycemia, micropenis and direct hyperbilirubinemia.
Congenital growth hormone deficiency– need enough IGF-1 for proper penile development in utero.
Follow up screening for patient with T1DM?
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
True or false. In familial short stature, bone age is delayed.
False. Bone age would be normal.
Growth Hormone treatment has an associated increase risk in sudden death when used to treat patients with what condition?
Prader-Willi syndrome
Criteria for diagnosis of diabetes?
(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
Kallmann Syndrome
Anosmia + hypogonadotropic hypogonadism (failure of gonadotropin producing neurons to migrate) + mirror movement issues (involuntary movements mirroring voluntary movements on the contralateral side)
What is associated with the combination of direct hyperbilirubinemia and micropenis?
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.
What is another name for Mayer-Rokitansky-Kuster-Hauser Syndrome?
Mullerian agenesis
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?
McCune-Albright Syndrome; cells that autonomously activate and develop apart from the rest of the body; fibrous dysplasia of the bones is also seen
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.
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.
True or False. 11 beta-OHylase deficiency can prevent with female virilization and hypertension and hyperkalemia.
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.
True or False. Sertoli cell and androgen insensitivity syndrome can present with gynecomastia and other female secondary sex characteristics.
True: having too much testosterone will cause the body to convert it to estrogen using aromatase enzyme.
