The genetics of idiopathic hypogonadotropic hypogonadism:unraveling the biology of human sexual development.
Pediatr Endocrinol Rev
; 6(3): 395-404, 2009 Mar.
Article
en En
| MEDLINE
| ID: mdl-19396025
ABSTRACT
Idiopathic Hypogonadotropic Hypogonadism (IHH), a syndrome of GnRH deficiency, is characterized by varying degrees of sexual development disruption. When associated with anosmia, it is termed Kallmann Syndrome (KS). Although it was identified as a hereditary disorder over half a century ago, only during the last two decades have specific putative IHH genes been revealed, including KAL1, GnRHR, FGFR1, GPR54, PROK2, PROKR2, FGF8, CHD7, TAC3 and TAC3R. Human mutations have shed light on the molecular control of GnRH neuronal embryogenesis and have elucidated elements critical in sexual development. Furthermore, the newly proposed oligogenic model has challenged the dogma of IHH being a single gene disorder and has heightened appreciation for the functional overlap of distinct signaling systems. This review offers an historical perspective to gene discoveries in IHH, genotype-phenotype correlations, and finally, discussion of the evolving complexity of the new IHH genetic model, no longer simply characterized by Mendelian inheritance.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Maduración Sexual
/
Hipogonadismo
Tipo de estudio:
Prognostic_studies
Límite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Pediatr Endocrinol Rev
Asunto de la revista:
ENDOCRINOLOGIA
/
PEDIATRIA
Año:
2009
Tipo del documento:
Article
País de afiliación:
Estados Unidos