Endocrinology Flashcards
thyroid hormone starts production at
12 weeks? 18-20 weeks?
11 beta hydroxylase
2nd MCC CAH. Middle Eastern descent. Inability to convert deoxycorticosterone to aldosterone
Inability to convert 11 deoxycortisol to cortisol
Excess of 17 OHP –> increased serum androgen production
No salt wasting (deoxycorticosterone present)
Tx. glucocorticoid replacement, genital reconstruction
MCC congenital heart disease of IDM
TGA
MCC congenital hypothyroidism
thyroid dysgenesis (75%) - partial or complete absence of thyroid
What is pseudohypoparathyroidism
defects in peripheral PTH receptors, hypocalcemia in setting of elevated PTH
Features of Vitamin-D dependent rickets
pathologic fractures, rachitic rosary, moth-eaten metaphyses
Hypoparathyroidism causes
glandular hypoplasia, neonatal glandular suppression as result of maternal hyperparathyroidism, autoimmune parathyroid its, mutations in Ca receptor
Parathyroid hormone actions
stimulates activity of renal 1-alpha-hydroxylase –> increases active form of Vitamin D and indirectly increases intestinal Ca and phosphorus absorption. Increases renal Ca absorption and decreases renal phosphorus absorption
IDM causes what electrolyte disturbances
neonatal hypocalcemia, hypoglycemia, hypomagnesemia
Only ____% of neonates born to women with Grave’s will be clinically affected
1%
There is a TSH _____ after birth with markedly _____ TsH concentration compared to older infants
surge, elevated
T4 is highest in first ____ of life. T3 tends to rise after first ____ and increases during first _____. rT3 _____ postnatally
week
week, month
decreases
IDM mechanism for surfactant deficiency
increased fetal insulin inhibitory action on fibroblast-pneumocyte factor (acts on type 2 alveolar cells to produce surfactant)
Thyroid gland embryogenesis is complete by _____ weeks of gestation. Begins to secrete hormone at ____ weeks
10-12 weeks. 12 weeks
Fetal TSH receptors don’t become responsive to TSH and TRaBs until _____ weeks
20 weeks
Progressive increase in T4 and thyroxine-binding globulin in fetus, as well as increase in free T4 between _____ weeks of gestation
18-36
5-alpha reductase deficiency
AR; limits conversion of testosterone to DHT.
Sx: ambiguous genitalia, appropriately differentiated Wolffian structures, absent Mullerian-derived structures, small phalus, urogenital sinus with perineal hypospadias, blind vaginal pouch
Later in life: progressive virilization with decreased facial hair and small prostates “Testicles at Twelve”
Females: normal
Aromatase deficiency
Prevents conversion of testosterone to estradiol (androstenedione is not ultimately converted to estrone). Affected females have Mullein duct structures and absent Wolffian duct structures, evident by ambiguous genitalia or cliteromegaly. Multicystic ovaries, tall strature, virilization at puberty, delayed bone age
Name the CAH enzymatic disorders
3-beta-hydroxysteroid dehydrogenase deficiency, 17-alpha hydroxyls, 21-hydroxylase, 11-beta hydroxylase
Hyperglycemia in preterm neonate is correlated with?
sepsis. Preterm hyperglycemic infants have glycosuria that is NOT associated with osmotic diuresis
Hyperglycemia in infants often results from insufficient pancreatic insulin secretion in both ____ and _____ infants
preterm and IUGR