Endocrinology Flashcards
growth hormone deficiency
hormone released in bursts and mostly at night. can be congenital or acquired. slow growth rate, normal birth weight. s/s increased ICP. microphallus. proportional short stature. delayed bone age. diagnostics: serum glucose, cBC, ESR, UA/chem profile, growth factor, thyroid levels, bone age x-ray left wrist, karyotype. Refer; growth hormone given.
constitutional short stature
normal variant. no chronic illness, delayed bone age, and normal growth for bone age. normal height velocity, but slowed 1-3year. delayed puberty. same diagnostics as GHD. Reassure family.for >10 years, may prime with sex steroids..?
precocious puberty
thelarche <8y girls <9y boys minus African & mexican Americans (<7). accelerated linear growth, breast development, testicular/penile enlargement, pubic hair development, may have advanced bone age. Central etiologies: idiopathic, CNS tumors, post CNS radiation/infection/trauma, congenital adrenal hyperplasia. Peripheral: exogenous hormone, tumors, hypothyroid.
delayed puberty
boy >14, girl >13 no puberty signs, or not from breast bud to menarche in 5 years and initiation of puberty to stage 5 in boys in 4.5 years. Check FSH, LH, estradiol in girls and testosterone in boys. if low FSH/LH, send karyotype for girls. etiology can be chronic illness, hormone deficiency, endocrine diseases. CGD most common cause.
gynecomastia
enlarged breasts in boys; should self resolve but f/u
adrenal insufficiency
deficits adrenal hormones like cortisol and aldosterone. in secondary, only glucocorticoid deficit. s/s: hypoglycemia and hypotension; if primary, at waste for salt-wasting crisis. etiology can be acquired, congenital, or lack of enzyme in adrenal gland. s/s: poor feeding, lethargy, vomiting, dehydration, hypotension, pigmentation of skin.
hyperthyroidism
overproduction of thyroid hormones. often d/t Graves (autoimmune). s/s: palpitations, tremor, emotional lability, increased appetite > weight loss, fatigue, hyperdefecation, poor sleep, goiter, thyroid bruit, tachycardia, widened pulse pressure, underweight, hyperreflexia, eyelid lag, exophthalmos, nodule.
hypothyroidism
congenital or acquired (Hashimoto, thyroidectomy, tx for hyperthyroid, radiation, drug included. s/s: growth delay, fatigue, dry skin, hyperlipidemia, delayed, menorrhagia. infant prolonged jaundice, constipation, umbilical hernia. large fontanelles, macroglossia, decreased tone/poor feeding. midline facial and eye abnormalities.
type 1 DM
autoimmune; onset any age, common caucasians, may not be overweight, null insulin secretion but normal sensitivity, acute onset, DKA. s/s: weight loss, fatigue/lethargy, blurred vision, 3 P’s. with ketoacids: abdominal pain, n/v, fruity smelling breath, mental confusion, coma, kussmaul.
type 2 DM
onset >10years often; more common females, African americans/hispanics/asians/natives, obese, in family, insulin secretion varies but sensitivity is decreased, onset subtle to severe, uncommon DKA, common HTN. screen if overweight and 2 risk factors. s/s: 3 P’s, blurred vision, hyper pigmented velvet rash on skin folds, slow healing, sleep apnea, family history.
obesity
> 95th percentile BMI. can associate with DM, hyperlipidemia, steatohepatitis, OSA, PCOS, HTN. Tx goal is weight maintenance not loss since they’re growing into it. if comorbidities, 1lb a month okay to lose. good nutrition/exercise.
glycogen storage diseases
deficiency of enzyme to breakdown glycogen stored in muscle and liver. s/s: cardiomegaly, hepatosplenomegaly, hypoglycemic seizures, lactic acidosis, ketosis, hyperlipidemia, easy fatigue, hypotonia, weakness. Dx: enzyme assays and mutation analysis. Tx: may need enteral feeds, frequent feeds, cornstarch slurry; assess glucose.
galactosemia
disorder of galactose metabolism, deficient GALT activity. ingested as lactose. s/s: poor weight gain, lethargy, jaundice, tubular kidney dysfunction, vomiting, coagulopathies, E. coli sepsis, post milk feeding. dx: GALT activity, liver enzymes, gal-1-P level elevated. Tx: eliminating dietary galactose. calcium supplement.
phenylketonuria
deficiency of enzyme phenylalanine. untreated leads to elevated levels of phenylalanine > CNS damage and retardation and lowered tyrosine > impaired amine synthesis for dopamine/norepi/melanin. Caucasians more common, autosomal recessive. s/s: may not show until after irreversible brain damage. lighter pigment, eczema rash, musty/mousy odor. Differentials: biopterin defects. Tx: limiting intake of phenylalanine, goal level 60-360. essential amino acid, so supplement with a special formula and has to have some.
dyslipidemia
disorders of lipoprotein metabolism leading to increased levels of total cholesterol and LDL, varied triglycerides, decreased HDL. acquired or secondary d/t drugs, endocrine disorders, storage disorders, anorexia nervosa etc.
