Pedia Flashcards
elevated serum 17-hydroxyprogesterone
Congential adrenal hyperplasia - usually due to deficiency 21-hydroxylase-imparied corticol synthesis; cannot negatively inhibit hypothalamus or pituitary; inc ACTH; inc adrenal androgens
symptoms of congenital adrenal hyperplasia, female
ambiguous genitalia at birth or hirsutism and virilism w/ norm menstruation
symptoms of congenital adrenal hyperplasia, male
adrenal crisis at birth or precocious puberty
Treatment of CAH
cortisol
MCC of genital ambiguity
CAH
Places newborns at risk for neonatal adrenal crisis due to sodium loss due to absence of aldosterone
CAH
what is the cause of irregular menstrual cycles in pubertal females
anovulatory cycles due to immaturity of hypothalamic-pituitary-gonadal axis, not producing adequate proportions of FSH, LH to induce ovulation
Pituitary gland location
Sella turcica
Rathke’s pouch gives rise to
Anterior pituitary gland
MC type of pituitary tumor in children
Rathke pouch craniopharyngioma
MC pituitary tumor in adults
Prolactinoma
DOC for prolactinoma
Bromocriptine (dopamine agonist)
Posterior lobe hormones
OxytocinADH
Definitive diagnosis of hypopituitarism
Absent or low levels of GH
dz as w/ asymmetric septal hypertrophy and transposition of the gerat vessels
maternal diabetes
Polyuria in children
> 5cc/kg/hour
DI: Vasopressin deficiency
Central
DI: Vasopressin insensitive kidney
Nephrogenic
ADH acts on which part of kidneys
CD
Etiology of 50% of DI
Brain tumor
SG of urine in DI
1.001-1.005
Urine osmolality in DI
50-200 mosm/kg
Electrolyte derrangement in DI
HypernatremiaHyperchloremia
3 P’sPrecocious pubertyPigmentation (unilateral cafe au lait spots - large, irregular borders, no freckling)Polyostotic fibrous dysplasia (multiple bone fractures)
McCune Albright syndrome
GI tract polyposis, mucocutaneous pigmentation-estrogen secreting tumor: precocious puberty
Peutz-Jeghers syndrome
T/F Peutz-Jeghers polyps are neoplasms
F, hamartomas
disorder due to autonomous stimulation of aromatase enzyme prod of estrogens by the ovaries
McCune-Albright syndrome
T/F There is an increased risk for cancer in Peutz-Jeghers syndrome
F
Most common polyp in GIT
Hypoplastic polyp
T/F Hypoplastic polyp is a neoplasm
F, hamartoma
MCC of precocious puberty
Hypothalamic hamartoma
Precocious puberty in girls
Breast bud before 8 years
Precocious puberty in boys
Testicular enlargement before 9
Coast of maine pattern
Cafe-au-laite spots of McCune Albright syndrome
Treatment for McCune Albright syndrome
Leuprolide acetate
47XXY
Klinefelter’s syndrome
Klinefelter is phenotypically male vs female
Male
-hypogonadism-testicular atrophy, tall stature, long extremities, gynecomastia, female hair distribution
Klinefelter’s syndrome
tall stature, emaciated extremities, arachnodactyly, hypermobility of joints, upward lens dislocation, aortic root dilation
Marfan
Marfan: Inheritance and mutation
Aut dom; Fibrillin-1 gene
stroke/thrombotic event; *fair complexion, *lens dislocated downward, *Mentally retarded
Homocystinuria
Homocystinuria: Inheritance and deficiency
Aut rec; cystathionine synthase deficiency
Homocystinuria: Elevated in blood
HomocysteineMethionine
Homocystinuria: Treatment
High doses Vit B6
Tall stature is defined as
Taller than 2SD above mean
Syndromes associated with tall stature
Sotos syndrome (cerebral gigantismMarfan syndrome
Short stature is defined as
> 3SD below mean for age and gender
Causes of short stature
ConstitutionalHypopituitarism (absent or low GH)Hypothyroidism
Syndrome’s associated with short stature
Turner syndrome (females)Noonan syndrome (males)
MCC of tall stature
Familial/normal variant
