Anti-Müllerian Hormone and Ovarian Morphology in Women With Isolated Hypogonadotropic Hypogonadism/Kallmann Syndrome: Effects of Recombinant Human FSH

Bry-Gauillard, Hélène; Larrat-Ledoux, Florence; Levaillant, Jean‐Marc; Massin, Nathalie; Maione, Luigi; Beau, Isabelle; Binart, Nadine; Chanson, Philippe; Brailly-Tabard, Sylvie; Hall, Janet E.; Young, Jacques

doi:10.1210/jc.2016-3799

Cited by 65 publications

(46 citation statements)

References 17 publications

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“…In both patients, sera were treated with polyethylene glycol to exclude measurement of macroprolactin [ 21 ]. Serum FSH and LH levels were measured using sensitive immunoradiometric assays (CIS bio international, GIF sur Yvette, France) as reported [ 22 ], with a detection limit of 0.05 IU/L for both hormones (IU/L, second International Reference Preaparation World Health Organization 78/549 for FSH; IU/L, first IRP 68/40 for LH). The intra-assay CV was 1.5% for LH and 2.7% for FSH using quality control sera measuring 3.5 and 3.9 IU/L, respectively [ 22 ].…”

Section: Methodsmentioning

confidence: 99%

Hypothalamic-Pituitary-Ovarian Axis Reactivation by Kisspeptin-10 in Hyperprolactinemic Women With Chronic Amenorrhea

Millar¹,

Sonigo²,

Anderson³

et al. 2017

Journal of the Endocrine Society

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Context:Hyperprolactinemia-induced hypogonadotropic amenorrhea (hPRL-HA) is a major cause of hypothalamic gonadotrophin-releasing hormone (GnRH) deficiency in women. In hyperprolactinemic mice, we previously demonstrated that hypothalamic kisspeptin (Kp) expression was diminished and that Kp administration restored hypothalamic GnRH release, gonadotropin secretion, and ovarian cyclicity, suggesting that Kp neurons could also play a role in hPRL-HA.Objective:To study the effect of Kp-10 on the gonadotropic-ovarian axis in women with hPRL-HA.Patients:Two women (32 and 36 years old) with chronic hPRL-HA (prolactin: between 94 and 102 and 98 and 112 ng/mL, respectively) caused by cabergoline-resistant microprolactinomas.Interventions:Cabergoline was discontinued 6 months before inclusion. Blood samples were taken every 10 minutes for 12 hours during 2 consecutive days to evaluate luteinizing hormone (LH) and follicle-stimulating hormone (FSH) secretion. Serum estradiol (E2), testosterone (T), and inhibin B (IB) levels were also measured. Vehicle or Kp-10 (1.5 μg/kg/h) was infused intravenously for 12 hours.Results:Kp-10 induced a significant increase in LH and FSH levels and increased LH pulses. E2, T, and IB serum levels were also significantly increased.Conclusions:In this exploratory study, we demonstrated that administration of Kp-10 reactivated gonadotropin secretion in women with hPRL-HA and increased ovarian activity. Our data suggest that, as in rodents, GnRH deficiency in hPRL-HA is also mediated by an impairment of hypothalamic Kp secretion. Kp-10 or its analogues could have therapeutic application as an alternative approach to restore ovarian function and fertility in women with hPRL-HA resistant to dopamine agonists and in whom pituitary surgery is not possible.

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Section: Methodsmentioning

confidence: 99%

Hypothalamic-Pituitary-Ovarian Axis Reactivation by Kisspeptin-10 in Hyperprolactinemic Women With Chronic Amenorrhea

Millar¹,

Sonigo²,

Anderson³

et al. 2017

Journal of the Endocrine Society

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“…In either sex, CHH/KS is usually diagnosed in adolescents and young adults who present with arrested or absent puberty (1)(2)(3)(4). The hormonal diagnosis is based on a concomitantly low (or inappropriately normal) serum levels of both pituitary gonadotrophins and sex steroids (1)(2)(3)(4)23,24,25).…”

Section: Clinical Diagnosis Of Chh/ksmentioning

confidence: 99%

“…The hormonal diagnosis is based on a concomitantly low (or inappropriately normal) serum levels of both pituitary gonadotrophins and sex steroids (1)(2)(3)(4)23,24,25). The rare exception concerns mutations of the genes encoding follicle stimulating hormone (FSH) and luteinizing hormone (LH) beta subunits (described later).…”

Section: Clinical Diagnosis Of Chh/ksmentioning

confidence: 99%

“…Ovulation induction can be achieved either with pulsatile GnRH therapy (2,9,33) or, alternatively, with FSH and LH administration followed by hCG or LH to trigger ovulation (2,3,(7)(8)(9). Thus, in contrast to many other primary causes of infertility with gonadal involvement (e.g.…”

Section: Chh/ks Is a Treatable Form Of Infertilitymentioning

confidence: 99%

“…Congenital hypogonadotropic hypogonadism (CHH, MIM 615267) with normal olfaction (normosmic CHH, or nCHH) or with altered odor perception (anosmia or hyposmia), a form known as Kallmann syndrome (KS, MIM 147950, 244200, 308700, 610628, 612370, 612702), are rare genetic diseases that prevent pubertal development in both males and females (1)(2)(3)(4). They are also responsible for infertility in both sexes (5)(6)(7)(8)(9).…”

Section: Introductionmentioning

confidence: 99%

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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

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132

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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Performance characteristics of the Mindray chemiluminescence anti‐Müllerian hormone assay

Zhao

Kang

Zhang

2021

Clinical Laboratory Analysis

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Anti-Müllerian Hormone and Ovarian Morphology in Women With Isolated Hypogonadotropic Hypogonadism/Kallmann Syndrome: Effects of Recombinant Human FSH

Abstract: IHH women have both low AMH levels and low AFC. However, their decrease can be reversed by follicle-stimulating hormone. Serum AMH and AFC should not serve as prognostic markers of fertility in this population.

Cited by 65 publications

References 17 publications

Hypothalamic-Pituitary-Ovarian Axis Reactivation by Kisspeptin-10 in Hyperprolactinemic Women With Chronic Amenorrhea

Hypothalamic-Pituitary-Ovarian Axis Reactivation by Kisspeptin-10 in Hyperprolactinemic Women With Chronic Amenorrhea

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

Performance characteristics of the Mindray chemiluminescence anti‐Müllerian hormone assay

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