title: Multiple endocrine disorders and Rathke's cleft cyst with Klinefelter's syndrome: a case report.
abstract: A 46-year-old Japanese male was admitted for the evaluation of severe hypertension. He was obese and had a eunuchoidal body habitus. Chromosomal analysis revealed a 46, XY/47, XXY karyotype. Serum LH, FSH and testosterone levels were low, indicating hypogonadotropic hypogonadism. Endocrinological dynamic tests disclosed presence of hypothalamic panhypopituitarism, partial diabetes insipidus, type 2 diabetes mellitus and low renin essential hypertension. Brain computed tomography and magnetic resonance imaging revealed intra- and extrasellar masses. Histological examination of the tissue obtained at transsphenoidal surgery showed a Rathke's cleft cyst (RCC). To the best of our knowledge, this is the first case report of mosaic Klinefelter's syndrome accompanied by symptomatic RCC, type 2 diabetes mellitus and low renin essential hypertension.
authors.affiliation: Department of Internal Medicine, Yanagawa Municipal Hospital, Fukushima, Japan.
authors.forename: Mitsuhiro
authors.initials: M
authors.lastname: Gotoh
authors.forename: Junko
authors.initials: J
authors.lastname: Nakano
authors.forename: Sanae
authors.initials: S
authors.lastname: Midorikawa
authors.forename: Susumu
authors.initials: S
authors.lastname: Niimura
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Ono
authors.forename: Kenji
authors.initials: K
authors.lastname: Mizuno
mesh_terms: D020863:Central Nervous System Cysts / Q000150:complications*; D003924:Diabetes Mellitus, Type 2 / Q000150:complications; D004700:Endocrine System Diseases / Q000150:complications*; D006801:Humans; D006973:Hypertension / Q000097:blood / Q000150:complications; D007713:Klinefelter Syndrome / Q000150:complications* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009030:Mosaicism; D012083:Renin / Q000097:blood
chemical_list: D012083:Renin