Endocrinoogy Flashcards
_results in the regression of female internal duct structure in genetic males
Mullerian Inhibiting Factor
-responsible for the formation of male external genitals
Androgens
- genetic males with female phenotypical features or ambiguous genitalia
- XY infant with clitoromegaly and palpable masses in the labial folds
Male pseudohermaphroditism
- either Mullerian inhibiting substance is not being formed or lack of receptors for MIF
- results in the formation of female parts in otherwise nl XY males
Persistent Mullerian Duct Syndrome
- genetically male (XY)
- receptors resistant to testosterone
- normal looking vagina and testes in inguinal canal
- primary amenorrhea (no ovaries or uterus)
- vagina with blind pouch
- X-linked
Androgen Insensitivity
- shocky, septic newborn
- males: excessive scrotal pigmentation
- females: ambiguous genitalia
- incr androgen levels
- AR
Congenital Adrenal Hyperplasia
- hyperkalemia, hyponatremia
- increased 17-OH progesterone
21 hydroxylase deficiency
- decr cortisol, incr ACTH
- hyperpigmentation
- hyperkalemia, hyponatremia, no aldosterone
Primary adrenal insufficiency
- decr ACTH, decr cortisol
- intact R-A-A system
- nL K & Na
- ACTH stim test incr cortisol
- midline defects (cleft lip, etc)
Secondary adrenal insufficiency
- chubby boy with short stature and small genitalia
- delay in bone age
- lack of GH release following insulin or arginine stimulation
GH deficiency
- MC in males
- decr growth velocity in early teens
- delayed onset of puberty
- bone age below chronological age
- increased growth velocity about 16 yo
- sexual dev lags behind
Constitutional growth delay
- bone age = chronological age
- nL growth velocity
- short parents
Familial Short Stature
- tall stature
- learning disabilities or normal intelligence
- small testicles
Klinefelter
-poor feeding, jaundice, constipation, hypotonia, hoarse cry, macroglossia, umbilical hernia, enlarged anterior fontanelle
Congenital hypothyroidism
- antibodies to thyroid tissue
- lymphocytic infiltration
- goiter
- anti-thyroglobulin and anti-thyroperoxidase
- MC low TSH, sometimes high
Hashimoto’s Thyroiditis
- caused by thyroid stimulating Ab
- bulging eyes, emotional lability, wt loss, sleep disturbance, heat intolerance
- acute mgmt: Propranolol
- chronic mgmt: PTU
- increased radioactive iodine uptake
Graves’ disease
-low total T4
-nl free T4
euthyroid clinically
-nL TSH
-no thyroid replacement necessary
Thyroid Binding Globulin Deficiency
- 2 random glucose >200 OR
- 1 random glucose >200 + Sx OR
- fasting glucose >126 OR
- 2 hr ppGluc >200
Dx of Diabetes
- islet cell destruction, inability to produce insulin
- polyuria, polydipsia, incr appetite, wt loss
- Tx: short and long acting insulin
Type 1 DM
- insulin resistance
- obesity, acanthosis nigricans
- Tx: nutrition, incr exercise, metformin
Type 2 DM
- incr TG
- decr HDL
- HTN
- incr gluc
- truncal obesity
Metabolic syndrome
- fluid replacement (1/2 deficit replaced over 16 hours)
- initial Na deficit
- K deficit regardless (corrects w/ acidosis)
- add glucose when BGT < 300
- monitor for cerebral edema
- Bicarb only if pH<7.1
DKA mgmt
- incr serum Osm and glucose
- fluid replacement over 36-48 hrs
- T2DM
Hyperosmotic Diabetic Coma
Williams Syndrome
Ingestion (Vit D & A, tthiazides)
Skeletal disorders (dysplasias, body casts)
Hyperparathyroidism
Tx: fluid, Lasix, EKG, calcitonin
Hypercalcemia
-Sx: painful muscle spasms, seizures, vomiting, long QT
-Chvostek & Trousseau
-Pseudohypoparathyroidism
Intake, Immune Deficiency (DiGeorge)
Nephrotic Syndrome (low Alb)
Kidney (renal insufficiency –> incr Phos, decr Ca
Hypocalcemia
- incr PTH, decr Ca
- end organ resistance
- dev delay, short, obese, moon facies, calcification of basal ganglia
Pseudohypoparathyroidism
-decr Ca, incr Phos
Hypoparathyroidism
-decr Ca, decr Phos
Vitamin D deficiency
- decr Ca, decr Phos, incr Alk Phos
- deficient mineralization of bone
- Risks: BF w/o Vit D, poor exposure to sunlight, dark skinned, LBW or prematurity, AEDs
- bone pain, anorexia, decr growth rate, widening of wrists & knees, rachitic rosary & craniotabes, delayed eruption of teeth
Rickets
-Type 1 (AR): inadequate renal production of 1,25-OH Vit D3
Tx: Vit D2 & 1,25-OH Vit D3
-Type 2 (AR): end organ resistance to Vit D, incr 1,25-OH Vit D
Vitamin D Dependent Rickets
- excessive Phos loss thru kidneys
- X-linked dominant
- decr conversion of 25-OH Vit D to 1,25-OH Vit D
- Tx: phosphate & 1,25 OH Vit D
Hypophosphatemic rickets
