Endocrinology
Each bubble is a syndrome; size reflects symptom count and links connect syndromes that share symptoms. Filter by specialty and tune the overlap threshold.
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Endocrinology syndromes
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Endocrinology
Kallmann syndrome
Congenital hypogonadotropic hypogonadism with absent sense of smell.
Endocrinology Kenny–Caffey syndrome
Short stature, tubular bone thickening and hypoparathyroidism.
Endocrinology Klinefelter syndrome
Male hypogonadism due to an extra X chromosome.
Endocrinology Laron syndrome
Severe short stature from growth hormone receptor deficiency.
Endocrinology Li–Fraumeni syndrome
Hereditary cancer predisposition including adrenocortical carcinoma.
Endocrinology Marshall–Smith syndrome
Accelerated skeletal maturation with failure to thrive and airway problems.
Endocrinology Mauriac syndrome
Growth failure, hepatomegaly and delayed puberty in poorly controlled type 1 diabetes.
Endocrinology Mayer–Rokitansky–Küster–Hauser syndrome
Congenital absence of uterus and upper vagina with normal ovaries and 46,XX karyotype.
Endocrinology Mazabraud syndrome
Fibrous dysplasia associated with intramuscular myxomas.
Endocrinology McCune–Albright syndrome
Triad of fibrous dysplasia, café-au-lait macules and autonomous endocrine hyperfunction.
Endocrinology Meier–Gorlin syndrome
Primordial dwarfism with microtia and absent patellae.
Endocrinology Multiple endocrine neoplasia type 1
Inherited tumor syndrome with parathyroid, pancreatic islet and anterior pituitary tumors.
Endocrinology Multiple endocrine neoplasia type 2A
Medullary thyroid carcinoma with pheochromocytoma and primary hyperparathyroidism.
Endocrinology Multiple endocrine neoplasia type 2B
Aggressive early medullary thyroid carcinoma, pheochromocytoma, mucosal neuromas and marfanoid habitus.
Endocrinology Nelson syndrome
Rapidly enlarging corticotroph adenoma after bilateral adrenalectomy for Cushing disease.
Endocrinology Nephrogenic syndrome of inappropriate antidiuresis
Hyponatremia from activating AVPR2 variants.
Endocrinology Ovarian hyperstimulation syndrome
Iatrogenic complication of ovulation induction with fluid shift and ovarian enlargement.
Endocrinology Pallister–Hall syndrome
Hypothalamic hamartoma with polydactyly and imperforate anus.
Endocrinology Pendred syndrome
Sensorineural hearing loss with goiter and abnormal perchlorate discharge test.
Endocrinology Perrault syndrome
Sensorineural hearing loss in both sexes with ovarian failure in females.
Endocrinology Persistent Müllerian duct syndrome
46,XY males with retained uterus and fallopian tubes.
Endocrinology Pituitary stalk interruption syndrome
Thin or interrupted pituitary stalk with ectopic posterior pituitary.
Endocrinology Polycystic ovary syndrome
Hyperandrogenism, ovulatory dysfunction and polycystic ovarian morphology.
Endocrinology Prader–Willi syndrome
Imprinting disorder with neonatal hypotonia, hyperphagia, obesity and hypogonadism.