title: Seminiferous tubule function in delayed-onset X-linked adrenal hypoplasia congenita associated with incomplete hypogonadotrophic hypogonadism.
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.
  
  
  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.
authors.affiliation: Centro de Investigaciones Endocrinológicas and División de Endocrinología, Hospital de Niños R. Gutiérrez, C1425EFD Buenos Aires, Argentina. ibergada@cedie.org.ar
authors.forename: Ignacio
authors.initials: I
authors.lastname: Bergadá
authors.forename: Luz
authors.initials: L
authors.lastname: Andreone
authors.forename: Patricia
authors.initials: P
authors.lastname: Bedecarrás
authors.forename: María Gabriela
authors.initials: MG
authors.lastname: Ropelato
authors.forename: Silvia
authors.initials: S
authors.lastname: Copelli
authors.forename: Paul
authors.initials: P
authors.lastname: Laissue
authors.forename: Rodolfo A
authors.initials: RA
authors.lastname: Rey
authors.forename: Stella
authors.initials: S
authors.lastname: Campo
mesh_terms: 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*