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://dx.doi.org/10.3390/jcm13226983 | DOI Listing |
J Clin Endocrinol Metab
December 2024
Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, UK.
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.
View Article and Find Full Text PDFHum Reprod Open
December 2023
Department of Internal Medicine and Pediatrics, Ghent University, Pediatric Endocrinology Service, Ghent University Hospital, Belgium, Ghent.
J Clin Med
November 2024
Pediatric Endocrinology Department, Hospital Regional Universitario de Málaga, 29010 Málaga, Spain.
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.
View Article and Find Full Text PDFSci Total Environ
December 2024
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.
View Article and Find Full Text PDFClin Endocrinol (Oxf)
September 2024
Department of Metabolism, Digestion & Reproduction, Imperial College London, London, UK.
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