Endocrine Syndromes

Gene/chromosome: MEN1, chromosome 11q13; Inheritance: Autosomal dominant; Triad: Parathyroid tumors, pituitary tumors, pancreatic neuroendocrine tumors; Associated: Pancreatic NET, gastrinoma, insulinoma; Investigation: MEN1 genetic testing, calcium/PTH, prolactin, pancreatic imaging

Gene/chromosome: RET, chromosome 10q11.2; Inheritance: Autosomal dominant; Triad: Medullary thyroid carcinoma, pheochromocytoma, parathyroid hyperplasia; Associated: Medullary thyroid carcinoma; Investigation: RET testing, calcitonin, plasma metanephrines

Gene/chromosome: RET, chromosome 10; Inheritance: Autosomal dominant; Triad: Medullary thyroid carcinoma, pheochromocytoma, mucosal neuromas; Associated: Aggressive medullary thyroid carcinoma; Investigation: RET testing, calcitonin

Gene/chromosome: PRKAR1A, chromosome 17; Inheritance: Autosomal dominant; Triad: Cardiac myxoma, spotty pigmentation, endocrine tumors; Associated: Cardiac myxoma, adrenal tumors; Investigation: Echocardiography, PRKAR1A testing

Gene/chromosome: GNAS, chromosome 20; Inheritance: Somatic mosaicism, sporadic; Triad: Café-au-lait spots, polyostotic fibrous dysplasia, precocious puberty; Associated: Endocrine hyperfunction, bone deformity; Investigation: Clinical diagnosis, GNAS testing

Gene/chromosome: No single gene; Inheritance: Acquired postpartum pituitary infarction; Triad: Failure of lactation, amenorrhea, hypotension; Associated: Hypopituitarism; Investigation: Pituitary hormones, MRI, low prolactin

Gene/chromosome: ANOS1, FGFR1 and other genes; Inheritance: X-linked, autosomal dominant or recessive depending on gene; Triad: Hypogonadotropic hypogonadism, anosmia, delayed puberty; Associated: Infertility; Investigation: LH/FSH, testosterone or estradiol, smell testing, genetic testing

Gene/chromosome: BBS genes; Inheritance: Autosomal recessive; Triad: Retinal dystrophy, obesity, polydactyly; Associated: Renal abnormalities, hypogonadism; Investigation: Fundoscopy, renal imaging, genetic panel

Gene/chromosome: Historically heterogeneous; some cases overlap BBS genes; Inheritance: Variable; Triad: Retinal dystrophy, hypogonadism, neurologic abnormalities; Associated: Obesity and renal abnormalities in overlapping phenotypes; Investigation: Clinical examination, retinal evaluation, genetic testing

Gene/chromosome: WRN, chromosome 8; Inheritance: Autosomal recessive; Triad: Premature aging, cataracts, skin changes; Associated: Sarcoma, thyroid cancer, other malignancies; Investigation: WRN genetic testing

Gene/chromosome: ERCC6 or ERCC8; Inheritance: Autosomal recessive; Triad: Photosensitivity, growth failure, neurodegeneration; Associated: Premature aging, severe neurologic complications; Investigation: DNA repair testing, genetic panel

Gene/chromosome: GHR, chromosome 5; Inheritance: Usually autosomal recessive; Triad: Severe short stature, high GH, low IGF-1; Associated: Hypoglycemia, metabolic complications; Investigation: GH/IGF-1, GH stimulation or generation testing, GHR testing

Gene/chromosome: INSR, chromosome 19; Inheritance: Autosomal recessive; Triad: Severe insulin resistance, growth failure, dysmorphic features; Associated: Neonatal hypoglycemia, early death in severe cases; Investigation: Insulinlucose profile, INSR testing

Gene/chromosome: SLC26A4, chromosome 7; Inheritance: Autosomal recessive; Triad: Congenital sensorineural deafness, goiter, thyroid dysfunction; Associated: Enlarged vestibular aqueduct; Investigation: Audiometry, thyroid function, SLC26A4 testing

Gene/chromosome: Usually acquired; familial forms may involve PRKAR1A or other genes; Inheritance: Usually sporadic/acquired; Triad: Central obesity, purple striae, proximal muscle weakness; Associated: Hypertension, diabetes, osteoporosis; Investigation: Overnight dexamethasone suppression, late-night salivary cortisol, urinary free cortisol