Seminiferous tubule function in delayed-onset X-linked adrenal hypoplasia congenita associated with incomplete hypogonadotrophic hypogonadism.
Clin Endocrinol (Oxf)
; 68(2): 240-6, 2008 Feb.
Article
em En
| MEDLINE
| ID: mdl-17803711
ABSTRACT
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Túbulos Seminíferos
/
Hiperplasia Suprarrenal Congênita
/
Doenças Genéticas Ligadas ao Cromossomo X
/
Hipogonadismo
Tipo de estudo:
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Adolescent
/
Child
/
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
Clin Endocrinol (Oxf)
Ano de publicação:
2008
Tipo de documento:
Article
País de afiliação:
Argentina