Clinical and Hormonal Features of a Male Adolescent with Congenital Isolated Follicle-Stimulating Hormone Deficiency.
Horm Res Paediatr
; 85(3): 207-12, 2016.
Article
en En
| MEDLINE
| ID: mdl-26625121
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 FSHß 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 FSHß 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 FSHß gene mutation associated with a prepubertal testes size and normal virilisation.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Terapia de Reemplazo de Hormonas
/
Mutación Missense
/
Hormona Folículo Estimulante
Límite:
Adolescent
/
Humans
/
Male
Idioma:
En
Revista:
Horm Res Paediatr
Asunto de la revista:
ENDOCRINOLOGIA
/
PEDIATRIA
Año:
2016
Tipo del documento:
Article
País de afiliación:
Turquía
Pais de publicación:
Suiza