-
4 causes of ketotic hypoglycemia
- benign ketotic hypoglycemia
- hormonal deficiencies
- glycogen storage disease
- abnormalities of gluconeogenisis
-
4 causes of nonketotic hypoglycemia
- infant of diabetic mother
- hyperinsulinism
- fatt acid oxidation disorders
- hyperinsulinism/hyperammonemia
-
peripheral precocious puberty
cafe au lait spots with irregular borders
bone lesions
McCune Albright syndrome
-
9 causes of hypogonadotropic hypogonadism
- chronic disease
- anorexia nervosa
- exercise induced amenorrhea
- isolated gonadotropin deficiency
- hypopituitarism, septo optic dysplasia
- Kallmann syndrome
- CNS tumors
- chemotherapy, CNS radiation
- hypothyroidism
-
4 causes of hypergonadotropic hypogonadism
- gonadal dysgenesis
- primary ovarian failure, including Turner syndrome
- primary testicular failure
- Klinefelter syndrome
-
hypertension, hypoglycemia,
signs of masculinization in XX infants
no salt wasting
aldosterone and glucocorticoid deficiency
11beta hydroxylase deficiency
-
hypertension, hypoglycemia, hypokalemia
XY infants with undermasculinized genitalia
primary hypogonadism in XX infants
no salt wasters
glucocoritcoid and sex hormones are deficient
17 hydroxylase deficiency
-
hypotension, hypoglycemia
XY infants with undermsculinized genitalia
most salt waste leading to adrenal crisis
mineralocortcoid, glucocorticoid, sex hormones are deficient
3beta hydroxysteroid dehydrogenase deficiency
-
hypotension, XY infants with undermasculinized genitalia
salt waste leads to adrenal crisis
mineralocorticoid, glucocorticoid, sex hormones are deficient
lipoid adrenal hyperplasia
-
increased levels of 17-OHP, androstenedione, and sex hormones
adrenal hyperplasia secondary to ACTH stimulation
75% classic salt wasters-deficiency of aldosteroine and cortisol
20% classic non salt wasters or simple virilizing-deficiency of cortisol only
1-5% non classic with adrogen excess only
21 hydroxylase deficiency
-
target adult height for males
(FH+MH +13cm)/2
-
target adult height for females
(FH+MH-13cm)/2
-
7 Causes of SIADH
- head trauma
- CNS infections
- CNS tumors
- surgery near the hypothalmus
- drugs (lithium)
- lung disease (TB)
- severe hypothyroidism
-
4 causes of tall stature
- Sotos syndrome (cerebral giantism)
- Familial tall stature
- Marfan syndrome
- Klinefelter syndrome
-
6 causes of short stature
- chromosomal--Turner's
- syndromic--Russell-Silver
- osteochondroplasias--achondroplasia
- chronic disease--CHD, DM, CLD, RF, malabsorption
- endocrinopathies--hypothyroidism, Cushing's, GH deficiency
- vareants of normal--constitutional delay, familial short stature, idiopathic
-
5 causes of DI
- midline brain abnormalities
- surgical/accidental trauma
- tumors--germinomas
- infiltrative disease--histiocytosis, lymphocytic hypophysitis
- gene mutations
-
6 causes of hypercalcemia
- hypervitaminosis D
- familial hypocalciuric hypercalcemia FHH
- prolonged immobilization
- primary hyperparthyroidism
- parathyroid adeenoma/hyperplasia
- Williams syndrome
-
9 causes of hypocalcemia
- antenatal maternal illness
- perinatal asphyxia, RDS, sepsis
- transient neonatal hypoparathyroidism
- excessive phosphate intake from formula
- structural parathyroid abnormality or mutations in gene for PTH
- Vitamin D deficiency
- inadequate calcium intake
- hypoparathyroidism
- pseudohypoparathyroidism
-
5 risk factors for rickets
- breast-feeding without vitamin D supplementation
- prematurity/low birth weight
- lack of sun exposure
- darkly pigmented skin
- anticonvulsant use
-
mutation in MENIN
pancreatic tumors
pituitary adenoma
parathyroid tumors
MEN 1
-
mutation in RET
parathyroid tumors
medullary thyroid carcinoma
pheochromocytoma
MEN 2A
-
mutation in RET
medullary thyroid carcinoma
pheochromocytoma 50%
marfanoid body habitus 80%
multiple mucosal neuromata >95%
MEN 2B
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