Endocrinology Flashcards
Testing for Cortisol Deficiency
24 hour urine cortisol
midnight salivary cortisol
dexamethasone suppression test
Hormone that causes onset of Puberty
GnRH
low total T4, normal free T4 and TSH
Thyroxine-binding globulin deficiency
Adrogen Exposure During Pregancy in first triemster
Wk 0-8: labial adhesion and clitoral enlargement
Wk 8-13: labial adhesion
virilization + HTN =
11B hydroxylase deficiency
virilization + salt wasting =
21 hydroxylase deficiency
incomplete virlizatoin + salt wasting =
3B hydroxysteroid dehydrogenase deficiency
Cushing Syndrome
Blue Nevi
Cardiac and skin myxomas
Sexual Precocity
Carney Complex
hypothalamic insufficiency
optic nerve hypoplasia
agenesis of the corpus callosum
optic nerve hypoplasia
Septooptic Dysplasia
Midfacial anomalies, think of
GH deficiency
most common tumor to have aqcuired pitutitary deficiencies
craniopharyngioma
Prader Willi Genetics
deletion from the father
infants with micropenis, think
GH deficiency
Growth Velocity is Normal
Bone Age is Delayed
Family History is Pubertal Delay
constitutional growth delay
Growth Velocity is Normal
Bone Age is Normal
Family History of Short Stature
Genetic/Familial Short Stature
Decreased Growth Velocity
Delayed Bone Age
GH deficiency or hypothyroidism
Schmidt Syndrome
T1DM
adrenal insufficiency
autoimmune thyroiditis
Gene on Y chromosome responsible for male phenotype
SRY
McCune Albright
precocious puberty
fibrous dysplasia
Cafe Au Lait Spots
Kleinfelter Syndrome
47XXY
intellectual disability
adrenarche occurs, but testes and penis remain small
47XXX
normal female
speech and language delays by 2 years of age
tall and gangly
What cancers are associated with Beckman Weideman
hepatoblastoma
Wilms Tumor
Soto Syndrome
grows rapidly initially and then slows to a normal pace
“cerebral gigantism”
Most Common Brain Lesion to cause precocious puberty
hypothalamic harmatoma
Microcephaly
Growth Retardation
Syndactlyl
Mutation in Cholesterol Synthesis
Smith-Lemli-Opitz
Most Common Cause of Congenital Hypothyroidism
Thyroid Dysgenesis
enlarged posterior fontanelle
hypothyroidism
Adrenoleukodystrophy
very long chain fatty acids
degerenative neurologic disorder, often starts with new-onset clumsliness
Donohue Syndrome
aka leprechaunism IUGR hypoglycemia, insulin resistance acthanosis nigricans death before 1
Kleinfelter has a risk of which cancer?
Breast Cancer
Swyer Syndrome
XY pure gonadal dysgenesis
female at birth, but does not develop breasts or menstruation
Prolactin increased by
antidopaminergic drugs
TRH
Differential for Tall Stature
Klinefelter, Marfan, homocystinuria
Central vs Peripheral Precocious Puberty
central: early maturation of HPG axis
peripheral: excess secretion of sex hormones from abnormal sources
gelastic seizures
hypothalamic harmatomas
Which part of puberty prematurity is NEVER normal
premature testelarche = brain tumor
TBG increased with
pregnancy, OCP
TBG decreased with
nephrotic syndrome
APS1 (Whitaker Syndrome)
addison disease
autoimmune hypothyroidism
chronic mucocutaneous candidiasis
Vitamin D Deficienct Rickets vs Familial Hypophosphatemic Rickets
VIt D = high PTH
FHR = normal PTH
Scrotal Hematoma, think
Adrenal Hemorrhage
Growth Failure Later in Childhood or Adolescense, think about
Craniopharyngioma
Red-Green ColorBlindness, think
Kallman syndrome
Barr Body
Kleinfelter
when to evaluate males for short stature
growing less than 4cm/year
5 alpha reductase deficiency
genetic males but females at birth; will have male sex charcteristics at puberty
Complete Androgen Insensitivity Syndrome
phenotypic female, intra-abdominal testes
Growth Hormone and Sudden Death, think
Prader-Willi
