Seminiferous tubule function in delayed-onset X-linked adrenal hypoplasia congenita associated with incomplete hypogonadotrophic hypogonadism.

Seminiferous tubule function in delayed-onset X-linked adrenal hypoplasia congenita associated with incomplete hypogonadotrophic hypogonadism. Research Abstract Details 

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Seminiferous tubule function in delayed-onset X-linked adrenal hypoplasia congenita associated with incomplete hypogonadotrophic hypogonadism. Abstract Text:

Ignacio ,Luz Andreone,Patricia , Ropelato,Silvia Copelli,Paul Laissue,Rodolfo A Rey,Stella Campo,

OBJECTIVE: X-linked adrenal hypoplasia congenita (AHC, OMIM 300200) due to mutations in the DAX-1 gene is frequently associated to hypogonadotrophic hypogonadism (HHG, OMIM 238320). Clinical variants with delayed-onset have been recognized. The objective of this study is to assess Sertoli cell function throughout pubertal development in patients with childhood-onset AHC due to stop mutations in the DAX-1 gene. DESIGN: Observational follow-up study of gonadotrophin pulsatility pattern, and serum levels of antimüllerian hormone and inhibin B through pubertal development in these patients. PATIENTS: Three patients belonging to two families with AHC were included in this study. MEASUREMENTS: The gonadotrophic pattern, serum inhibin B and antimüllerian hormone were determined in relation to clinical Tanner stage of pubertal development. RESULTS: One patient showed a marked elevation in serum FSH concomitantly with low inhibin B and antimüllerian hormone levels, indicating a primary testicular dysfunction. The other two patients showed a gonadotrophic pattern of HHG, and their serum levels of inhibin B and antimüllerian hormone also reflected a moderate primary testicular dysfunction. The three patients were azoospermic. CONCLUSIONS: These cases give further insight into the clinical spectrum of phenotypes of the hypothalamic-pituitary-gonadal axis in patients with variants in hypogonadism associated with childhood-onset X-linked AHC due to DAX-1 mutations.

Seminiferous tubule function in delayed-onset X-linked adrenal hypoplasia congenita associated with incomplete hypogonadotrophic hypogonadism. Publishing Authors By Initials

I ,L Andreone,P ,MG Ropelato,S Copelli,P Laissue,RA Rey,S Campo,

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Seminiferous tubule function in delayed-onset X-linked adrenal hypoplasia congenita associated with incomplete hypogonadotrophic hypogonadism. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Clinical endocrinology

VOLUME: 68

Page Numbers: 240-6

Journal Abbreviation: Clin. Endocrinol. (Oxf)

ISSN: 1365-2265

DAY: 4

MONTH: 09

YEAR: 2007

Seminiferous tubule function in delayed-onset X-linked adrenal hypoplasia congenita associated with incomplete hypogonadotrophic hypogonadism. Information

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LANGUAGE: eng

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Grant and Affiliation Information for Seminiferous tubule function in delayed-onset X-linked adrenal hypoplasia congenita associated with incomplete hypogonadotrophic hypogonadism.

AFFILIATION: Centro de Investigaciones Endocrinológicas and División de Endocrinología, Hospital de Niños R. Gutiérrez, C1425EFD Buenos Aires, Argentina. ibergada@cedie.org.ar

Country: England

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MEDLINETA: Clin Endocrinol (Oxf)

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