Clinical endocrinology · 2007
Seminiferous tubule function in delayed-onset X-linked adrenal hypoplasia congenita associated with incomplete hypogonadotrophic hypogonadism.
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Bergadá Ignacio, Andreone Luz, Bedecarrás Patricia, Ropelato María Gabriela, Copelli Silvia, Laissue Paul, Rey Rodolfo A, Campo Stella
Аннотация
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.
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.