Isolated follicle-stimulating hormone (FSH) deficiency without mutation of the FSHβ gene and successful treatment with human menopausal gonadotropin

Murao, Koji; Imachi, Hitomi; Muraoka, Tomie; Fujiwara, Mako; Kushida, Yoshio; Haba, Reiji; Ishida, Toshihiko

doi:10.1016/j.fertnstert.2008.02.145

Cited by 13 publications

(9 citation statements)

References 15 publications

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“…Isolated FSH deficiency has been reported in infertile men (Berger et al, 2005; Mantovani et al, 2003), and successful results have been obtained with treatment. After 6 months of hMG treatment, spermatogenesis was successfully induced in an azoospermic man with isolated FSH deficiency (Murao et al, 2008). In the present study, TMSC significantly increased from 6.64 ± 3.27 to 32.4 ± 9.09 million after the treatment with rhFSH.…”

Section: Discussionmentioning

confidence: 99%

The Efficacy of Recombinant Human Follicle‐Stimulating Hormone in the Treatment of Various Types of Male‐Factor Infertility at a Single University Hospital

Efesoy

Çayan

Akbay

2009

Journal of Andrology

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The aim of the study was to prospectively investigate the efficacy of recombinant human follicle-stimulating hormone (rhFSH) in the treatment of various types of male-factor infertility at a single university hospital. The study included 61 infertile men receiving rhFSH because of various type of male infertility. Treatment included 100-150 IU of rhFSH 2-3 times/wk. All men were divided into 4 groups: hypogonadotropic hypogonadism (n = 21), isolated follicle-stimulating hormone (FSH) deficiency (n = 13), idiopathic oligoasthenospermia (n = 16) and maturation arrest on testicular biopsy (n = 11). Total motile sperm count (TMSC), serum FSH level, and testicular volume were compared before and after treatment in all groups. In the hypogonadotropic hypogonadism group, spermatozoa appeared in the ejaculate, with a mean TMSC of 6.67 +/- 1.57 million, in 15 of 21 patients (71.4%) who were totally azoospermic before the treatment. In the isolated FSH deficiency group, TMSC significantly increased from 6.64 +/- 3.27 to 32.4 +/- 9.09 million after the treatment (P = .003). TMSC did not significantly increase in the idiopathic oligoasthenospermia group. Two of the men with maturation arrest (18.1%) had spermatozoa in the ejaculate after the treatment. rhFSH therapy may be effectively used to improve sperm parameters in infertile men with hypogonadotropic hypogonadism and isolated FSH deficiency. In addition, rhFSH may effect some improvement by either providing sperm in ejaculate or increasing intracytoplasmic sperm injection success in infertile men with maturation arrest.

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Section: Discussionmentioning

confidence: 99%

The Efficacy of Recombinant Human Follicle‐Stimulating Hormone in the Treatment of Various Types of Male‐Factor Infertility at a Single University Hospital

Efesoy

Çayan

Akbay

2009

Journal of Andrology

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“…[38][39][40] Studies of men with a monotropic deficiency of FSH of unknown etiology and normal virilization and circulating testosterone levels are also worthy of note since several of these individuals have been reported to be infertile. [41][42][43] Moreover, in 2 of these men treatment with either human menopausal gonadotropin (hMG), which has FSH activity, or FSH itself was associated with either the initiation of spermatogenesis or with fertility. 42,43 In contrast to FSHb mutations, 5 subjects with mutations in the FSH-R, that greatly reduced incorporation of the mutant protein into the membrane, were reported to be fertile with testes that were smaller than normal and oligospermia.…”

Section: Nonhuman Primates and Humanmentioning

confidence: 99%

“…[41][42][43] Moreover, in 2 of these men treatment with either human menopausal gonadotropin (hMG), which has FSH activity, or FSH itself was associated with either the initiation of spermatogenesis or with fertility. 42,43 In contrast to FSHb mutations, 5 subjects with mutations in the FSH-R, that greatly reduced incorporation of the mutant protein into the membrane, were reported to be fertile with testes that were smaller than normal and oligospermia. 44 However, circulating FSH levels were elevated in these subjects, and residual FSH signaling by the mutated receptor cannot be excluded.…”

Section: Nonhuman Primates and Humanmentioning

confidence: 99%

Endocrine control of spermatogenesis: Role of FSH and LH/ testosterone

2014

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Evaluation of testicular functions (production of sperm and androgens) is an important aspect of preclinical safety assessment and testicular toxicity is comparatively far more common than ovarian toxicity. This chapter focuses (1) on the histological sequelae of disturbed reproductive endocrinology in rat, dog and nonhuman primates and (2) provides a review of our current understanding of the roles of gonadotropins and androgens. The response of the rodent testis to endocrine disturbances is clearly different from that of dog and primates with different germ cell types and spermatogenic stages being affected initially and also that the end-stage spermatogenic involution is more pronounced in dog and primates compared to rodents. Luteinizing hormone (LH)/testosterone and follicle-stimulating hormone (FSH) are the pivotal endocrine factors controlling testicular functions. The relative importance of either hormone is somewhat different between rodents and primates. Generally, however, both LH/testosterone and FSH are necessary for quantitatively normal spermatogenesis, at least in non-seasonal species.

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“…Giltay et al [16] also showed similar findings after rhFSH treatment in patients with isolated FSH deficiency [16]. Murao et al [17] demonstrated successful spermatogenesis after 6 months of treatment with human menopausal gonadotropin in a patient with isolated FSH deficiency associated with azoospermia. In addition, serum testosterone was increased by rhFSH treatment to a normal adult level in a patient with isolated FSHβ subunit gene mutation presenting with prepubertal clinical signs and testosterone level [14].…”

Section: Discussionmentioning

confidence: 84%

“…To date, only two studies have reported histopathological examination of testis biopsies from patients with isolated FSH deficiency secondary to FSHβ gene mutation [10,17]. The reported histopathological findings include hypospermatogenesis, decreased size and number of seminiferous tubules, small numbers of Sertoli cells, the absence of germ cells, and prominent Leydig cell hyperplasia.…”

Section: Discussionmentioning

confidence: 99%

Clinical and Hormonal Features of a Male Adolescent with Congenital Isolated Follicle-Stimulating Hormone Deficiency

Şimşek

Montenegro²,

Binay³

et al. 2015

Horm Res Paediatr

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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 FSHβ 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 FSHβ 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 FSHβ gene mutation associated with a prepubertal testes size and normal virilisation.

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Isolated follicle-stimulating hormone (FSH) deficiency without mutation of the FSHβ gene and successful treatment with human menopausal gonadotropin

Cited by 13 publications

References 15 publications

The Efficacy of Recombinant Human Follicle‐Stimulating Hormone in the Treatment of Various Types of Male‐Factor Infertility at a Single University Hospital

The Efficacy of Recombinant Human Follicle‐Stimulating Hormone in the Treatment of Various Types of Male‐Factor Infertility at a Single University Hospital

Endocrine control of spermatogenesis: Role of FSH and LH/ testosterone

Clinical and Hormonal Features of a Male Adolescent with Congenital Isolated Follicle-Stimulating Hormone Deficiency

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