[X-linked Kallmann's syndrome: intra and interfamilial heterogeneity].
OBJECTIVE
Hypogonadotropic hypogonadism and anosmia characterize Kallmann's syndrome, whose X-linked form is due to mutations in the KAL1 gene. We studied a family with 6 affected members.


METHODS
We compare their clinical (chryptorchidism, micropenis, puberty, associated malformations), analytical (gonadotrophin releasing hormone test, and human chorionic gonadotropin test), genetic (cariotype), and radiological data of the described familiar cases with other reported sporadic cases.


RESULTS
The described cases carried the R191X mutation. We found phenotypic heterogeneity between the patients.


CONCLUSIONS
We report the first familiar cases of Kallmann's syndrome due to the R191X mutation. Probably other genes and/or epigenetic factors determine the phenotype.
Vidal
Alfonso
A
Unidad de Endocrinología Pediátrica, Hospital Universitario Ramón y Cajal, Madrid, Spain.
Loidi
Lourdes
L
Colino
Esmeralda
E
del Carmen Miranda
María
M
Barrio
Raquel
R
D002675:Child, Preschool; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D018740:Genetic Heterogeneity; D006801:Humans; D007223:Infant; D017436:Kallmann Syndrome / Q000235:genetics*; D008297:Male; D010375:Pedigree