title: A fertile male patient with Kallmann syndrome and two missense mutations in the KAL1 gene.
abstract: OBJECTIVE
  To present clinical, genetic, biochemical, and molecular findings in a male fertile patient with Kallmann syndrome (KS).
  
  
  METHODS
  Case report.
  
  
  METHODS
  University medical center.
  
  
  METHODS
  A 26-year-old Chinese man.
  
  
  METHODS
  Clinical evaluation, hormone assays, gene mutation research.
  
  
  METHODS
  Endocrinologic evaluation and genetic analysis.
  
  
  RESULTS
  The patient had KS as a result of two missense mutations at exon 11 of KAL1 gene, 1690 G>A and 1765 G>A, a G→A transition in codons 514 and 539, which resulted in the replacement of lysine by glutamic acid, respectively. One of them is a novel mutation.
  
  
  CONCLUSIONS
  Although loss-of-function mutations of the KAL1 gene is associated with the X-linked form of KS, the reproductive capacity remains unidentified in patients with KS with KAL1 gene mutations. Here, we report a male patient who presented the KS phenotype with fertility. The patient's sperm parameters were lower than the reference ranges; however, a son was born through natural conception after 12 months of marriage. Mutation analysis revealed two KAL1 gene mutations. The results provided further support for the hypothesis that patients with KS can achieve normal sexual development and fertility after hCG treatment, and imply that this genotype is more prevalent in reproductive patients with KS than in the other patients with KS and incurable infertility.
authors.affiliation: Department of Urology, Tongji Hospital, Tongji Medical College, Huazhong University of Science & Technology, Wuhan, People's Republic of China.
authors.forename: Shilin
authors.initials: S
authors.lastname: Zhang
authors.forename: Tao
authors.initials: T
authors.lastname: Wang
authors.forename: Jun
authors.initials: J
authors.lastname: Yang
authors.forename: Zhuo
authors.initials: Z
authors.lastname: Liu
authors.forename: Shaogang
authors.initials: S
authors.lastname: Wang
authors.forename: Jihong
authors.initials: J
authors.lastname: Liu
mesh_terms: D000328:Adult; D001483:Base Sequence; D006063:Chorionic Gonadotropin / Q000627:therapeutic use; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D005298:Fertility / Q000187:drug effects / Q000502:physiology*; D006801:Humans; D007006:Hypogonadism / Q000188:drug therapy / Q000209:etiology / Q000235:genetics; D007231:Infant, Newborn; D017436:Kallmann Syndrome / Q000150:complications / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics*; D011247:Pregnancy; D055101:Semen Analysis
chemical_list: C076266:ANOS1 protein, human; D006063:Chorionic Gonadotropin; D016326:Extracellular Matrix Proteins; D009419:Nerve Tissue Proteins