Mini-Puberty, Physiological and Disordered: Consequences, and Potential for Therapeutic Replacement.

IF 22 1区 医学 Q1 ENDOCRINOLOGY & METABOLISM Endocrine reviews Pub Date : 2024-07-12 DOI:10.1210/endrev/bnae003
Julia Rohayem, Emma C Alexander, Sabine Heger, Anna Nordenström, Sasha R Howard
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Abstract

There are 3 physiological waves of central hypothalamic-pituitary-gonadal (HPG) axis activity over the lifetime. The first occurs during fetal life, the second-termed "mini-puberty"-in the first months after birth, and the third at puberty. After adolescence, the axis remains active all through adulthood. Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disorder characterized by a deficiency in hypothalamic gonadotropin-releasing hormone (GnRH) secretion or action. In cases of severe CHH, all 3 waves of GnRH pulsatility are absent. The absence of fetal HPG axis activation manifests in around 50% of male newborns with micropenis and/or undescended testes (cryptorchidism). In these boys, the lack of the mini-puberty phase accentuates testicular immaturity. This is characterized by a low number of Sertoli cells, which are important for future reproductive capacity. Thus, absent mini-puberty will have detrimental effects on later fertility in these males. The diagnosis of CHH is often missed in infants, and even if recognized, there is no consensus on optimal therapeutic management. Here we review physiological mini-puberty and consequences of central HPG axis disorders; provide a diagnostic approach to allow for early identification of these conditions; and review current treatment options for replacement of mini-puberty in male infants with CHH. There is evidence from small case series that replacement with gonadotropins to mimic "mini-puberty" in males could have beneficial outcomes not only regarding testis descent, but also normalization of testis and penile sizes. Moreover, such therapeutic replacement regimens in disordered mini-puberty could address both reproductive and nonreproductive implications.

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小青春期,生理性和失调性:后果和治疗替代的潜力。
在人的一生中,下丘脑-垂体-性腺轴(HPG)的中枢活动有三个生理波段。第一波发生在胎儿时期,第二波被称为 "小青春期",发生在出生后的头几个月,第三波发生在青春期。青春期过后,该轴在整个成年期都会保持活跃。先天性性腺功能减退症(CHH)是一种罕见的遗传性疾病,其特点是下丘脑促性腺激素释放激素(GnRH)分泌或作用不足。在严重的 CHH 病例中,GnRH 的三波搏动都不存在。胎儿 HPG 轴激活缺失表现为约 50% 的男性新生儿有小阴茎和/或睾丸下降不全(隐睾症)。在这些男孩中,小青春期的缺失凸显了睾丸的不成熟。其特点是塞尔托利细胞数量少,而塞尔托利细胞对未来的生殖能力非常重要。因此,小青春期的缺失将对这些男性日后的生育能力产生不利影响。婴儿 CHH 的诊断常常被漏诊,即使确诊,最佳治疗方法也没有达成共识。在此,我们回顾了生理性小头畸形和 HPG 轴中枢紊乱的后果;提供了一种诊断方法,以便及早发现这些病症;并回顾了目前替代 CHH 男婴小头畸形的治疗方案。有小型病例系列的证据表明,用促性腺激素替代来模拟男性的 "小青春期 "不仅在睾丸下降方面有益,而且还能使睾丸和阴茎大小正常化。此外,对发育紊乱的 "小青春期 "采取这种治疗替代方案,可以解决生殖和非生殖方面的问题。
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来源期刊
Endocrine reviews
Endocrine reviews 医学-内分泌学与代谢
CiteScore
42.00
自引率
1.00%
发文量
29
期刊介绍: Endocrine Reviews, published bimonthly, features concise timely reviews updating key mechanistic and clinical concepts, alongside comprehensive, authoritative articles covering both experimental and clinical endocrinology themes. The journal considers topics informing clinical practice based on emerging and established evidence from clinical research. It also reviews advances in endocrine science stemming from studies in cell biology, immunology, pharmacology, genetics, molecular biology, neuroscience, reproductive medicine, and pediatric endocrinology.
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