A Genetic Basis for Functional Hypothalamic Amenorrhea

Caronia, Lisa M.; Martin, Claus; Welt, Corrine K.; Sykiotis, Gerasimos P.; Quinton, Richard; Thambundit, Apisadaporn; Avbelj, Magdalena; Dhruvakumar, Sadhana; Plummer, Lacey; Hughes, Virginia; Seminara, Stephanie B.; Boepple, Paul A.; Sidis, Yisrael; Crowley, William F.; Hall, Janet E.; Pitteloud, Nelly

doi:10.1097/ogx.0b013e31822f94c4

Cited by 26 publications

(29 citation statements)

References 32 publications

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“…We report three allelic variations of PROKR2 associated with PSIS. Two of these variants, p.Arg85His and p.Leu173Arg, were previously found and shown to be deleterious to protein function, supporting a causative role in the phenotype (11,19,20). The third PROKR2 allelic variant, p.Ala51Thr, previously described as a rare allelic variant (13), was found in nonconsanguineous familial cases (pedigree B), with two affected sisters and their asymptomatic mother bearing the allelic variant.…”

Section: Discussionmentioning

confidence: 93%

PROKR2 Variants in Multiple Hypopituitarism with Pituitary Stalk Interruption

Reynaud

Jayakody

Monnier

et al. 2012

The Journal of Clinical Endocrinology &Amp; Metabolism

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Section: Discussionmentioning

confidence: 93%

PROKR2 Variants in Multiple Hypopituitarism with Pituitary Stalk Interruption

Reynaud

Jayakody

Monnier

et al. 2012

The Journal of Clinical Endocrinology &Amp; Metabolism

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“…Although temporary suppression of the HPG axis is a normal physiological response during times of stress, the threshold required for the precipitating factor to suppress the HPG axis varies considerably among women 207 . In part, this variability might result from heterozygous mutations for genes known to influence the GnRH neuronal network 208 . Although normal reproductive function can be restored after the relevant stressors have been identified and removed 209 , a full understanding of the stress module and how it connects to the pulse-generator module could be of great clinical utility.…”

Section: Hypothalamic Amenorrhoeamentioning

confidence: 99%

Control of puberty onset and fertility by gonadotropin-releasing hormone neurons

2016

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The gonadotropin-releasing hormone (GnRH) neuronal network generates pulse and surge modes of gonadotropin secretion critical for puberty and fertility. The arcuate nucleus kisspeptin neurons that innervate the projections of GnRH neurons in and around their neurosecretory zone are key components of the pulse generator in all mammals. By contrast, kisspeptin neurons located in the preoptic area project to GnRH neuron cell bodies and proximal dendrites and are involved in surge generation in female rodents (and possibly other species). The hypothalamic-pituitary-gonadal axis develops embryonically but, apart from short periods of activation immediately after birth, remains suppressed through a combination of gonadal and non-gonadal mechanisms. At puberty onset, the pulse generator reactivates, probably owing to progressive stimulatory influences on GnRH neurons from glial and neurotransmitter signalling, and the re-emergence of stimulatory arcuate kisspeptin input. In females, the development of pulsatile gonadotropin secretion enables final maturation of the surge generator that ultimately triggers the first ovulation. Representation of the GnRH neuronal network as a series of interlocking functional modules could help conceptualization of its functioning in different species. Insights into pulse and surge generation are expected to aid development of therapeutic strategies ameliorating pubertal disorders and infertility in the clinic.

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“…Functional hypothalamic amenorrhea is defined as the absence of menses secondary to the suppression of the HPG axis where other causes have been excluded [68] . There is evidence of variable susceptibility to functional hypothalamic amenorrhea based on genetic factors [69] . Estradiol and other hormones affected by low energy availability, including IGF-1, cortisol, and leptin, are important for bone metabolism.…”

Section: Female Athlete Triadmentioning

confidence: 99%

Exercise, Training, and the Hypothalamic-Pituitary-Gonadal Axis in Men and Women

Sokoloff¹,

Misra²,

Ackerman³

2016

Frontiers of Hormone Research

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The hypothalamic-pituitary-gonadal (HPG) axis is essential for adequate responses to exercise and training both acutely and chronically. Both testosterone and estrogen play leading roles in neuromuscular adaptation to exercise in males and females. The purpose of this chapter is to illustrate the physiological and pathological changes that occur in the HPG axis secondary to exercise and training. In males, testosterone increases with acute bouts of exercise, but long-term effects are less clear, with evidence of lower testosterone in endurance athletes. Restricted energy availability may negatively affect hormone levels in male endurance athletes, but data regarding low energy availability and its impact on the HPG axis are limited in male athletes. Conversely, in females there is significant evidence that decreased energy availability inhibits the HPG axis, leading to menstrual irregularities and lower bone density. Hormonal changes secondary to acute bouts of exercise are more challenging to interpret in females due to menstrual variability, which traditionally has not been taken into account in many studies. However, some evidence supports an increase in testosterone and estradiol with acute exercise. More work is needed to elucidate the relationships among energy availability, basal hormonal fluctuations, and exercise, and their collective effects on the HPG axis.

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A Genetic Basis for Functional Hypothalamic Amenorrhea

Cited by 26 publications

References 32 publications

PROKR2 Variants in Multiple Hypopituitarism with Pituitary Stalk Interruption

PROKR2 Variants in Multiple Hypopituitarism with Pituitary Stalk Interruption

Control of puberty onset and fertility by gonadotropin-releasing hormone neurons

Exercise, Training, and the Hypothalamic-Pituitary-Gonadal Axis in Men and Women

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