Endocrine Flashcards
2 week old male with FTT, persistent vomiting, dehydration, acidosis
CAH 21OH deficiency
Inguinal hernia, primary amenorrhea, no pubic hair
Androgen Insensitivity Syndrome
11 yr old female with ambiguous genitalia, masculinizes at puberty
5 Alpha Reductase deficiency
3 day old baby, 10 lbs at birth, jittery
Infant of Diabetic Mother with hypoglycemia
5 day old baby, small jaw, broad nose, Tetralogy of Fallot, seizures
DiGeorge syn/ Velo-cardio-facial syndrome
8 y.o. boy with developmental delay, short round facies, SQ calcifications, shortened 4th digit, hypocalcemia
Albright’s Hereditary Osteodystrophy/ Pseudohypoparathyroidism
3 month old male with elfin facies, supravalvular aortic stenosis, no with Ca of 12.2
William’s Syndrome
4 day old male with hypoglycemia, oomphalocele, hemihypertrophy
Beckwith Wiedemann Syndrome
10 lb plethoric neonate, requiring 15 mg/kg/min dextrose infusion. Mom without Gestational DM
Congenital Hyperinsulinism
18 month old boy with mild fever overnight, presents with loss of consciousness and hypoglycemia
Ketotic hypoglycemia (DX OF EXCLUSION)
5 day old male with small phallus, jaundice, now with glucose of 45 and ketones in urine after 4 hours of fast
Hypopituitarism (ACTH, GH deficiency)
9 year old male, <3 %ile, following own curve, delayed bone age of 2 years. No other findings.
Constitutional Delay of Growth and Puberty
6 year old with nighttime headaches, falling from 25th %ile to 5th %ile over 1 year, enuresis
Intracranial tumor in region of pituitary
9 month old female who has dropped from 50th to 25th %ile for length over last 5 months
NORMAL
18 month old male, length and weight ‘stalled’ since 9 months. Stools remarkably odorous
Celiac/ malabsorption
11 year old female with no growth for 2 years, tired, constipated and ‘yellowish’ skin
Hypothyroidism - likely Hashimoto’s
13 year old female, «_space;3 %ile, no breast development, h/o heart murmur
Turner Syndrome
2 year old female with bilateral breast buds, unchanged for 1 year, no growth acceleration
Benign Premature Thelarche
5 year old girl with pubic hair, mild hyper-pigmentation of skin folds, slightly enlarged clitoris
Simple virilizing CAH - 21 OH deficiency
14 year old girl, school troubles, getting in fights, appears to be ‘on drugs’ because of red bulgy eyes and irritability
Graves Hyperthyroidism
14 year old boy, tall, thin, mid-puberty but small testicles noted on sports physical
Klinefelter Syndrome
4 year old girl with rapid breast development, large brown birthmark, recent arm pain of unknown source
McCune Albright syndrome
Anosmia and hypogonadotropic hypogonadism
Kallman’s syndrome
