title: Novel homozygous deletion of segmental KAL1 and entire STS cause Kallmann syndrome and X-linked ichthyosis in a Chinese family.
abstract: Kallmann syndrome (KS) is a genetically heterogeneous disease characterised by hypogonadotrophic hypogonadism in association with anosmia or hyposmia. This condition affects 1 in 10 000 men and 1 in 50,000 women. Defects in seventeen genes including KAL1 gene contribute to the molecular basis of KS. We report the clinical characteristics, molecular causes and treatment outcome of two Chinese brothers with KS and X-linked ichthyosis. The phenotypes of the patients were characterised by bilateral cryptorchidism, unilateral renal agenesis in one patient but normal kidney development in another. The patients had low serum testosterone, follicle-stimulating hormone and luteinising hormone levels and a blunt response to the gonadotrophin-releasing hormone stimulation test. After human chorionic gonadotrophin treatment, the serum testosterone levels were normalized, and the pubic hair, penis length and testicular volumes were greatly improved in both of the patients. The two affected siblings had the same novel deletion at Xp22.3 including exons 9-14 of KAL1 gene and entire STS gene. Our study broadens the mutation spectrum in the KAL1 gene associated with KS and facilitates the genetic diagnosis and counselling for KS.
authors.affiliation: Department of Urology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
authors.forename: H
authors.initials: H
authors.lastname: Xu
authors.affiliation: Department of Internal Medicine and Gene Therapy Center, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
authors.forename: Z
authors.initials: Z
authors.lastname: Li
authors.affiliation: Department of Urology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
authors.forename: T
authors.initials: T
authors.lastname: Wang
authors.affiliation: Department of Urology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
authors.forename: S
authors.initials: S
authors.lastname: Wang
authors.affiliation: Department of Urology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
authors.forename: J
authors.initials: J
authors.lastname: Liu
authors.affiliation: Department of Internal Medicine and Gene Therapy Center, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
authors.forename: D W
authors.initials: DW
authors.lastname: Wang
mesh_terms: D016326:Extracellular Matrix Proteins / Q000235:genetics* / Q000502:physiology; D006720:Homozygote; D006801:Humans; D016114:Ichthyosis, X-Linked / Q000235:genetics*; D017436:Kallmann Syndrome / Q000235:genetics*; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000502:physiology; D010375:Pedigree; D017384:Sequence Deletion / Q000235:genetics* / Q000502:physiology; D035781:Siblings; D043266:Steryl-Sulfatase / Q000235:genetics* / Q000502:physiology
chemical_list: C076266:ANOS1 protein, human; D016326:Extracellular Matrix Proteins; D009419:Nerve Tissue Proteins; C584039:STS protein, human; D043266:Steryl-Sulfatase
keywords: Genetics; Kallmann syndrome; spermatogenesis