Reversible Kallmann syndrome: report of the first case with a KAL1 mutation and literature review.

@article{Ribeiro2007ReversibleKS,
  title={Reversible Kallmann syndrome: report of the first case with a KAL1 mutation and literature review.},
  author={Rog{\'e}rio Silicani Ribeiro and Teresa Cristina A. Vieira and Julio Zaki Abucham},
  journal={European journal of endocrinology},
  year={2007},
  volume={156 3},
  pages={285-90}
}
Kallmann syndrome (KS) describes the association of isolated hypogonadotropic hypogonadism with hypo/anosmia. A few KS patients may reverse hypogonadism after testosterone withdrawal, a variant known as reversible KS. Herein, we describe the first mutation in KAL1 in a patient with reversible KS and review the literature. The proband was first seen at 22 years complaining of anosmia and lack of puberty. His brother had puberty at 30 years and a maternal granduncle had anosmia and delayed… CONTINUE READING

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