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.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11595084PMC
http://dx.doi.org/10.3390/jcm13226983DOI Listing

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Context: Congenital hypogonadotropic hypogonadism (CHH) is defined as an isolated deficiency of gonadotropin hormones. Mini-puberty, a transient postnatal activation of the hypothalamic-pituitary-gonadal axis in healthy infants, provides a window of opportunity to diagnose and treat CHH. Currently, in male infants with CHH, testosterone is used to increase phallus size.

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Hum Reprod Open

December 2023

Department of Internal Medicine and Pediatrics, Ghent University, Pediatric Endocrinology Service, Ghent University Hospital, Belgium, Ghent.

Article Synopsis
  • - The study investigates the long-term effects of bilateral testicular regression (BTR) in individuals, focusing on growth and development outcomes, particularly highlighting suboptimal penile growth often related to genetic factors.
  • - BTR, a rare condition with potential vascular and genetic origins, was analyzed in a cross-sectional study involving 35 participants recruited from eight pediatric endocrinology departments in Belgium over three years.
  • - Key findings revealed common maternal complications during pregnancy and identified specific genetic variants in some participants, while a centralized review of gonadal tissue contributed to understanding the condition's clinical implications.
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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.

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Associations between prenatal exposure to metal mixtures and infant reproductive hormones during mini-puberty.

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Key Laboratory of Environment and Health, Ministry of Education & Ministry of Environmental Protection, and State Key Laboratory of Environmental Health, School of Public Health, Tong ji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China. Electronic address:

Background: The reproductive hormone homeostasis is crucial for child development. Exposure to metals during pregnancy may have adverse effects on offspring health. However, the association between prenatal exposure to metals and infant reproductive hormone levels remains unknown.

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