Gonadotrophin replacement for induction of fertility in hypogonadal men

Dwyer, Andrew A.; Raivio, Taneli; Pitteloud, Nelly

doi:10.1016/j.beem.2014.10.005

Cited by 97 publications

(80 citation statements)

References 99 publications

(133 reference statements)

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“…Spermatogenesis can be induced either by long-term pulsatile GnRH administration (pump) 193 or more commonly by subcutaneous gonadotropin injections (2-3 times weekly). [194][195][196][197][198] These therapies induce both testicular testosterone production by Leydig cells and spermatogenesis in the seminiferous tubules. [199][200][201][202] The majority of patients with CHH develop sperm in their ejaculate with longterm therapy.…”

Section: Induction Of Male Fertilitymentioning

confidence: 99%

“…194,[206][207][208] If no sperm is present in the ejaculate after 3-6 months of treatment, FSH can be used to stimulate the seminiferous tubules. 198 In the most severely affected men with CHH (testicular volume <4 ml), a sequential treatment has emerged in an attempt to maximize fertility potential. 10,209,210 The unopposed FSH treatment before maturation by hCG (or alternatively, GnRH-induced LH) stimulates proliferation of immature Sertoli and germ cells.…”

Section: Induction Of Male Fertilitymentioning

confidence: 99%

“…Anovulation and ovarian reserve can be assessed via a combination of history of menstrual cycle abnormalities, laboratory examination and pelvic ultrasonography. Couples should be counselled appropriately on the basis of the identified predictors of CHH fertility-inducing treatment, [193][194][195][196][197][198]200 as well as the partner's reproductive status and age in order to develop realistic expectations regarding treatment outcome.…”

Section: Induction Of Male Fertilitymentioning

confidence: 99%

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European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment

et al. 2015

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| Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder caused by the deficient production, secretion or action of gonadotropin-releasing hormone (GnRH), which is the master hormone regulating the reproductive axis. CHH is clinically and genetically heterogeneous, with >25 different causal genes identified to date. Clinically, the disorder is characterized by an absence of puberty and infertility. The association of CHH with a defective sense of smell (anosmia or hyposmia), which is found in ~50% of patients with CHH is termed Kallmann syndrome and results from incomplete embryonic migration of GnRHsynthesizing neurons. CHH can be challenging to diagnose, particularly when attempting to differentiate it from constitutional delay of puberty. A timely diagnosis and treatment to induce puberty can be beneficial for sexual, bone and metabolic health, and might help minimize some of the psychological effects of CHH. In most cases, fertility can be induced using specialized treatment regimens and several predictors of outcome have been identified. Patients typically require lifelong treatment, yet ~10-20% of patients exhibit a spontaneous recovery of reproductive function. This Consensus Statement summarizes approaches for the diagnosis and treatment of CHH and discusses important unanswered questions in the field.

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Section: Induction Of Male Fertilitymentioning

confidence: 99%

Section: Induction Of Male Fertilitymentioning

confidence: 99%

Section: Induction Of Male Fertilitymentioning

confidence: 99%

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European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment

et al. 2015

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“…In men with CHH/KS, infertility is due to absent sperm production (5,6,27,28). However, spermatogenesis can be induced in most cases by either long-term pulsatile GnRH administration via a microinfusion pump, or by exogenous gonadotropin injections 5,6,27,28).…”

Section: Chh/ks Is a Treatable Form Of Infertilitymentioning

confidence: 99%

“…They are also responsible for infertility in both sexes (5)(6)(7)(8)(9). The impact of CHH on puberty, sexuality and reproduction result from deficient secretion or action of gonadotropin-releasing hormone (GnRH).…”

Section: Introductionmentioning

confidence: 99%

GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism and next-generation sequencing

Maione

Dwyer

Francou

et al. 2018

European Journal of Endocrinology

131

166

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Congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS) are rare, related diseases that prevent normal pubertal development and cause infertility in affected men and women.However, the infertility carries a good prognosis as increasing numbers of patients with CHH/KS are now able to have children through medically assisted procreation.These are genetic diseases that can be transmitted to patients' offspring. Importantly patients and their families should be informed of this risk and given genetic counseling. CHH and KS are phenotypically and genetically heterogeneous diseases in which the risk of transmission largely depends on the gene(s) responsible(s). Inheritance may be classically Mendelian yet more complex, oligogenic modes of transmission have also been described. The prevalence of oligogenicity has risen dramatically since the advent of massively parallel next-generation sequencing (NGS) in which tens, hundreds or thousands of genes are sequenced at the same time. NGS is medically and economically more efficient and more rapid than traditional Sanger sequencing, and is increasingly being used in medical practice. Thus it seems plausible that oligogenic forms of CHH/KS will be increasingly identified making genetic counseling even more complex. In this context, the main challenge will be to differentiate true oligogenism from situations when several rare variants that do not have a clear phenotypic effect are identified by chance. This review aims to summarize the genetics of CHH/KS and to discuss the challenges of oligogenic transmission but also its role in incomplete penetrance and variable expresivity in a perspective of genetic counseling.

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Congenital Hypogonadotropic Hypogonadism (Isolated GnRH Deficiency)

Pitteloud

2019

Pituitary Disorders of Childhood

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Gonadotrophin replacement for induction of fertility in hypogonadal men

Cited by 97 publications

References 99 publications

European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment

European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment

GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism and next-generation sequencing

Congenital Hypogonadotropic Hypogonadism (Isolated GnRH Deficiency)

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