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


METHODS
Observational follow-up study of gonadotrophin pulsatility pattern, and serum levels of antimüllerian hormone and inhibin B through pubertal development in these patients.


METHODS
Three patients belonging to two families with AHC were included in this study.


METHODS
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.
Bergadá
Ignacio
I
Centro de Investigaciones Endocrinológicas and División de Endocrinología, Hospital de Niños R. Gutiérrez, C1425EFD Buenos Aires, Argentina. ibergada@cedie.org.ar
Andreone
Luz
L
Bedecarrás
Patricia
P
Ropelato
María Gabriela
MG
Copelli
Silvia
S
Laissue
Paul
P
Rey
Rodolfo A
RA
Campo
Stella
S
D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000097:blood / Q000235:genetics / Q000503:physiopathology*; D000309:Adrenal Insufficiency; D054304:Anti-Mullerian Hormone / Q000097:blood; D002648:Child; D002675:Child, Preschool; D057137:DAX-1 Orphan Nuclear Receptor / Q000235:genetics; D005640:Follicle Stimulating Hormone / Q000097:blood; D040181:Genetic Diseases, X-Linked / Q000097:blood / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D000075262:Hypoadrenocorticism, Familial; D007006:Hypogonadism / Q000097:blood / Q000235:genetics / Q000503:physiopathology*; D007265:Inhibins / Q000097:blood; D008297:Male; D009154:Mutation; D012671:Seminiferous Tubules / Q000503:physiopathology*