Clinical and Hormonal Features of a Male Adolescent with Congenital Isolated Follicle-Stimulating Hormone Deficiency
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Citações na Scopus
14
Tipo de produção
article
Data de publicação
2016
Editora
KARGER
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Título da Revista
ISSN da Revista
Título do Volume
Autores
SIMSEK, Enver
MONTENEGRO, Luciana R.
BINAY, Cigdem
DEMIRAL, Meliha
ACIKALIN, Mustafa Fuat
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Citação
HORMONE RESEARCH IN PAEDIATRICS, v.85, n.3, p.207-212, 2016
Resumo
Aim: Our aim was to describe the clinical and genetic findings in an adolescent male with isolated follicle-stimulating hormone (FSH) deficiency and demonstrate the efficacy of recombinant human FSH (rhFSH) replacement in this case. Methods: A 14.5-year-old adolescent male was referred with normal pubertal development and small testes. Serum testosterone, FSH, and luteinising hormone (LH) were measured at baseline and after gonadotropin-releasing hormone (GnRH) stimulation. Testicular biopsy was performed, and rhFSH replacement was administered for 6 months. The patient's FSH beta gene was amplified and sequenced. Results: Basal and GnRH-stimulated FSH levels were undetectable, in contrast with increased LH levels under both conditions. Histopathological investigation of a testicular biopsy specimen revealed a reduced number of Sertoli cells, the absence of germ cells, Leydig cell hyperplasia, and a thickened basement membrane in seminiferous tubules. The testicular size changed from 1 ml at baseline to 6 ml after 6 months of rhFSH replacement. Sequencing of the FSH beta gene exon 3 revealed a new missense mutation (c.364T>C, resulting in p.Cys122Arg) in a homozygous state in the patient; both parents and a sister carried the same mutation in a heterozygous state. We also compared our case with all similar cases published previously. Conclusion: We herein described an adolescent male with isolated FSH deficiency due to a novel FSH beta gene mutation associated with a prepubertal testes size and normal virilisation. (C) 2015 S. Karger AG, Basel
Palavras-chave
Isolated follicle-stimulating hormone deficiency, Follicle-stimulating hormone treatment, Azoospermia, FSH beta subunit gene mutation
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