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低促性腺激素性性腺功能减退男婴小青春期的治疗方案:一项回顾性病例系列研究

A Therapeutic Proposal for Mini-Puberty in Male Infants with Hypogonadotropic Hypogonadism: A Retrospective Case Series.

作者信息

Mesas-Aróstegui María Aurora, Hita-Contreras Fidel, López-Siguero Juan Pedro

机构信息

Pediatric Endocrinology Department, Instituto Hispalense de Pediatría, Hospital Quirón Marbella, 29603 Málaga, Spain.

Pediatrics Department, Hospital of Guadix, 18500 Granada, Spain.

出版信息

J Clin Med. 2024 Nov 20;13(22):6983. doi: 10.3390/jcm13226983.

Abstract

Male patients with congenital hypogonadotropic hypogonadism (CHH) have impaired postnatal activation of the hypothalamic-pituitary-gonadal axis that occurs during mini-puberty. The aim of this study was to report our experience using gonadotropin replacement therapy for mini-puberty in male infants with CHH and to establish treatment recommendations. The patients included in this retrospective case series ( = 9) were diagnosed in the postnatal period due to micropenis, with two being accompanied by cryptorchidism and four with other associated hormonal deficits. All patients started treatment with gonadotropins early after diagnosis, between 2 weeks and 5 months of age, with a schedule of discontinuous injections with subcutaneous human chorionic gonadotropin (62.5-500 IU) two times per week and recombinant follicle-stimulating hormone-alpha (37.5-75 IU) three times per week. : The data from our study show an early response, ranging from almost undetectable levels of testosterone at diagnosis to elevated levels after starting treatment, as well as a positive clinical response with increases in testicular volume and penis size in all cases without requiring complementary treatment with testosterone esters and without adverse effects. Our results show that gonadotropin replacement therapy is a well-tolerated and effective treatment for testicular and penile problems in male patients with CHH.

摘要

患有先天性低促性腺激素性性腺功能减退(CHH)的男性患者,在小青春期期间下丘脑-垂体-性腺轴的产后激活受损。本研究的目的是报告我们使用促性腺激素替代疗法治疗CHH男婴小青春期的经验,并制定治疗建议。纳入本回顾性病例系列的患者(n = 9)在出生后因小阴茎被诊断,其中2例伴有隐睾症,4例伴有其他相关激素缺乏。所有患者在诊断后早期开始用促性腺激素治疗,年龄在2周龄至5月龄之间,采用皮下注射人绒毛膜促性腺激素(62.5 - 500 IU)每周2次和重组促卵泡激素-α(37.5 - 75 IU)每周3次的间断注射方案。:我们研究的数据显示出早期反应,从诊断时几乎检测不到的睾酮水平到开始治疗后升高的水平,以及在所有病例中均有积极的临床反应,睾丸体积和阴茎大小增加,无需用睾酮酯进行补充治疗且无不良反应。我们的结果表明,促性腺激素替代疗法是治疗CHH男性患者睾丸和阴茎问题的耐受性良好且有效的治疗方法。

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