Chromosomal Translocation t(13;16) in a Patient with Idiopathic Hypogonadotropic Hypogonadism.
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چکیده
منابع مشابه
Chromosomal translocation t(13;16) in a patient with idiopathic hypogonadotropic hypogonadism.
A patient with idiopathic hypogonadotropic hypogonadism (IHH) had an apparently balanced reciprocal translocation involving chromosomes 13 and 16 [t(13;16)(q14.11;q24)]. The patient's father has the same chromosomal translocation with no apparent physical abnormalities. The role of the chromosomal translocation in this patient is discussed.
متن کاملGonadotropins in Infertile Men with Idiopathic Hypogonadotropic Hypogonadism
Background Stimulatory therapy with gonadotrpins is an effective treatment to induce spermatogenesis in men with idiopathic hypogonadotroptic hypogonadism (IHH). The aim of this study was to assess the effectiveness of human chorionic gonadotropin / human menopausal gonadotropin on hypogonadotropic infertile men. MaterialsAndMethods This study included fifty-six azoospermic infertile men with I...
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BACKGROUND Idiopathic hypogonadotropic hypogonadism, which may be associated with anosmia (the Kallmann syndrome) or with a normal sense of smell, is a treatable form of male infertility caused by a congenital defect in the secretion or action of gonadotropin-releasing hormone (GnRH). Patients have absent or incomplete sexual maturation by the age of 18. Idiopathic hypogonadotropic hypogonadism...
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Mutations in the fibroblast growth factor receptor 1 gene (FGFR1) have been reported in patients with Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism (nIHH). Here, we report an nIHH patient with a novel mutation in FGFR1. The patient was a 19-year-old female who presented the nIHH phenotype with primary amenorrhea, cleft lip and palate, mixed hearing disorders, and skel...
متن کاملStudy on KAL1 Gene Mutations in Idiopathic Hypogonadotropic Hypogonadism Patients with X-Linked Recessive Inheritance
Idiopathic hypogonadotropic hypogonadism (IHH) is a condition caused by low doses of hypothalamic gonadotropin-releasing hormone (GnRH) leading to absence or incomplete sexual maturation. One of the disorders leading to IHH is Kallmann syndrome which is characterized by GnRH deficiency with anosmia or hyposmia. This disorder generally occurs as a hereditary syndrome with X-linked recessive inhe...
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ژورنال
عنوان ژورنال: Internal Medicine
سال: 1993
ISSN: 0918-2918,1349-7235
DOI: 10.2169/internalmedicine.32.465