GnRH receptor gene mutations in adolescents and young adults presenting with signs of partial gonadotropin deficiency

Hietamäki, Johanna; Hero, Matti; Holopainen, Elina; Känsäkoski, Johanna; Vaaralahti, Kirsi; Iivonen, Anna-Pauliina; Miettinen, Päivi J.; Raivio, Taneli

doi:10.1371/journal.pone.0188750

Cited by 20 publications

(18 citation statements)

References 40 publications

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“…In the present study, the AltEnd event in ESRRA more exclusively occurred in pre-puberty, compared with post-puberty in ovary. It has been reported that TACR3 directly regulates the release of GnRH and the onset of puberty (Hietamaki et al, 2017). In the present study, we found that Cassette of TAC3R was more specifically identified in post-puberty in pituitary, compared with that of pre-puberty.…”

Section: Discussionsupporting

confidence: 58%

Alternative Splicing Dynamics of the Hypothalamus–Pituitary–Ovary Axis During Pubertal Transition in Gilts

Pan

Chen

et al. 2021

Front. Genet.

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The timing of puberty in mammals marks the point at which reproduction becomes possible. Abnormalities in the timing of puberty may exert a series of negative effects on subsequent health outcomes. Alternative splicing (AS) has not only emerged as a significant factor in the transcription of genes but it is also reported to play a role in the timing of puberty. However, to date, the changes and dynamics of AS during the onset of puberty is extremely seldom explored. In the present study, we used gilts as a research model to investigated the dynamics of AS and differentially expressed AS (DEAS) events within the hypothalamus–pituitary–ovary (HPO) axis across pre-, in-, and post-puberty. We detected 3,390, 6,098, and 9,085 DEAS events in the hypothalamus, pituitary, and ovary when compared across pre-, in-, and post-pubertal stages, respectively. Within the entire HPO axis, we also identified 22,889, 22,857, and 21,055 DEAS events in the pre-, in-, and post-pubertal stages, respectively. Further analysis revealed that the differentially spliced genes (DSGs) associated with staged DEAS events were likely to be enriched in the oxytocin signaling pathway, thyroid hormone signaling pathway, GnRH signaling pathway, and oocyte meiosis signaling pathway. The DSGs associated with DEAS events across the entire HPO axis were enriched in endocytosis signaling pathway, the MAPK signaling pathway, and the Rap1 signaling pathway. Moreover. the ASs of TAC1, TACR3, CYP19A1, ESR1, ESRRA, and FSHR were likely to regulate the functions of the certain HPO tissues during the onset of puberty. Collectively, the AS dynamics and DEAS events were comprehensively profiled in hypothalamus, pituitary, and ovary across the pre-, in-, and post-pubertal stages in pigs. These findings may enhance our knowledge of how puberty is regulated by AS and shed new light on the molecular mechanisms underlying the timing of puberty in mammals.

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Section: Discussionsupporting

confidence: 58%

Alternative Splicing Dynamics of the Hypothalamus–Pituitary–Ovary Axis During Pubertal Transition in Gilts

Pan

Chen

et al. 2021

Front. Genet.

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“…Further, analysis of sex ratio for CHH in families with autosomal inheritance demonstrates that the sex ratio is close to being equal (194,195). Importantly, partial congenital hypogonadotropic hypogonadism may still be underdiagnosed due to subtle clinical presentation that resembles functional hypothalamic amenorrhea (131,196). Several reasons could help to explain the underdiagnosis of CHH females:…”

Section: Bias Regarding the Reduced Prevalence Of Chh In Femalesmentioning

confidence: 99%

Clinical Management of Congenital Hypogonadotropic Hypogonadism

et al. 2019

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“… 8 9 Mutations in gonadotropin-releasing hormone receptor gene ( GNRHR ), fibroblast growth factor receptor 1 gene ( FGFR1 ), tachykinin 3 ( TAC3 ), and tachykinin receptor 3 gene ( TACR3 ) cause PCHH. 10 Because of lack of clear diagnostic criteria, previous studies of PCHH were mainly limited to description of symptoms and characterization of mutant genes. There have been no reports on gonadotropin treatment for a Chinese population with PCHH.…”

Section: Introductionmentioning

confidence: 99%

Gonadotropin treatment for male partial congenital hypogonadotropic hypogonadism in Chinese patients

et al. 2020

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Partial congenital hypogonadotropic hypogonadism (PCHH) is caused by an insufficiency in, but not a complete lack of, gonadotropin secretion. This leads to reduced testosterone production, mild testicular enlargement, and partial pubertal development. No studies have shown the productivity of spermatogenesis in patients with PCHH. We compared the outcomes of gonadotropin-induced spermatogenesis between patients with PCHH and those with complete congenital hypogonadotropic hypogonadism (CCHH). This retrospective study included 587 patients with CHH who were treated in Peking Union Medical College Hospital (Beijing, China) from January 2008 to September 2016. A total of 465 cases were excluded from data analysis for testosterone or gonadotropin-releasing hormone treatment, cryptorchidism, poor compliance, or incomplete medical data. We defined male patients with PCHH as those with a testicular volume of ≥4 ml and patients with a testicular volume of <4 ml as CCHH. A total of 122 compliant, noncryptorchid patients with PCHH or CCHH received combined human chorionic gonadotropin and human menopausal gonadotropin and were monitored for 24 months. Testicular size, serum luteinizing hormone levels, follicle-stimulating hormone levels, serum total testosterone levels, and sperm count were recorded at each visit. After gonadotropin therapy, patients with PCHH had a higher spermatogenesis rate (92.3%) than did patients with CCHH (74.7%). During 24-month combined gonadotropin treatment, the PCHH group took significantly less time to begin producing sperm compared with the CCHH group (median time: 11.7 vs 17.8 months, P < 0.05). In conclusion, after combined gonadotropin treatment, patients with PCHH have a higher spermatogenesis success rate and sperm concentrations and require shorter treatment periods for sperm production.

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GnRH receptor gene mutations in adolescents and young adults presenting with signs of partial gonadotropin deficiency

Cited by 20 publications

References 40 publications

Alternative Splicing Dynamics of the Hypothalamus–Pituitary–Ovary Axis During Pubertal Transition in Gilts

Alternative Splicing Dynamics of the Hypothalamus–Pituitary–Ovary Axis During Pubertal Transition in Gilts

Clinical Management of Congenital Hypogonadotropic Hypogonadism

Gonadotropin treatment for male partial congenital hypogonadotropic hypogonadism in Chinese patients

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