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Titolo:
Gonadal histology with testicular carcinoma in situ in a 15-year-old 46,XYfemale patient with a premature termination is the steroidogenic acute regulatory protein causing congenital lipoid adrenal hyperplasia
Autore:
Korsch, E; Peter, M; Hiort, O; Sippell, WG; Ure, BM; Hauffa, BP; Bergmann, M;
Indirizzi:
Childrens Hosp Cologne, Dept Pediat, D-50735 Cologne, Germany Childrens Hosp Cologne Cologne Germany D-50735 D-50735 Cologne, Germany Univ Kiel, Dept Pediat Endocrinol, D-24098 Kiel, Germany Univ Kiel Kiel Germany D-24098 Pediat Endocrinol, D-24098 Kiel, Germany Childrens Hosp Cologne, Dept Pediat Surg, D-50735 Cologne, Germany Childrens Hosp Cologne Cologne Germany D-50735 D-50735 Cologne, Germany Univ Lubeck, Dept Pediat Endocrinol, D-2400 Lubeck, Germany Univ Lubeck Lubeck Germany D-2400 iat Endocrinol, D-2400 Lubeck, Germany Univ Essen Gesamthsch, Dept Pediat Hematol Oncol & Endocrinol, D-4300 Essen Univ Essen Gesamthsch Essen Germany 1 l Oncol & Endocrinol, D-4300 Essen Univ Giessen, Dept Vet Anat, D-35390 Giessen, Germany Univ Giessen Giessen Germany D-35390 Vet Anat, D-35390 Giessen, Germany
Titolo Testata:
JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
fascicolo: 5, volume: 84, anno: 1999,
pagine: 1628 - 1632
SICI:
0021-972X(199905)84:5<1628:GHWTCI>2.0.ZU;2-6
Fonte:
ISI
Lingua:
ENG
Soggetto:
ABNORMAL SEXUAL-DIFFERENTIATION; GERM-CELL TUMORS; HISTOPATHOLOGICAL ABNORMALITIES; STAR GENE; NEOPLASIA; INSITU; 11-DEOXYCORTICOSTERONE; 17-HYDROXYPROGESTERONE; CORTICOSTERONE; FEMINIZATION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
41
Recensione:
Indirizzi per estratti:
Indirizzo: Korsch, E Childrensrmany Cologne, Dept Pediat, Amsterdamerstr 59, D-50735 Cologne, Ge Childrens Hosp Cologne Amsterdamerstr 59 Cologne Germany D-50735
Citazione:
E. Korsch et al., "Gonadal histology with testicular carcinoma in situ in a 15-year-old 46,XYfemale patient with a premature termination is the steroidogenic acute regulatory protein causing congenital lipoid adrenal hyperplasia", J CLIN END, 84(5), 1999, pp. 1628-1632

Abstract

Mutations in the steroidogenic acute regulatory protein (StAR) gene cause congenital Lipoid adrenal hyperplasia, characterized by diminished or absence of adrenal and gonadal steroids, resulting in severe adrenal insufficiency and ambiguous or complete female external genitalia in genetic males. We report on a 15-yr-old 46,XY phenotypic female, referred because of lackof pubertal development. ACTH and gonadotropin concentrations were elevated; and aldosterone, cortisol and its precursors, and sex steroids before and after stimulation were below the lower limit of detection. In the StAR gene, a homozygous nonsense mutation (TGG --> TAG) in exon 7 (W250X) was identified. Histologic examination after gonadectomy showed seminiferous tubules containing immature Sertoli cells and a few single germ cells with positive placental-like alkaline phosphatase immunoreactivity, indicating carcinoma in situ. This is the first report on testicular morphology, at a pubertal age, in afemale patient with 46,XY karyotype and a mutation in the StAR gene, in whom gonadal neoplasia had developed.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/09/20 alle ore 22:50:37