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A Therapeutic Proposal for Mini-Puberty in Male Infants with Hypogonadotropic Hypogonadism: A Retrospective Case
María Aurora Mesas-Aróstegui1,2, Fidel Hita-Contreras3, Juan Pedro López-Siguero4
1Pediatric Endocrinology Department, Instituto Hispalense de Pediatría, Hospital Quirón Marbella, 29603 Málaga, Spain.
Insights
Gonadotropin replacement therapy effectively treats micropenis and undescended testes in male infants with congenital hypogonadotropic hypogonadism (CHH). This treatment promotes normal testicular and penile development during mini-puberty without adverse effects.
Area of Science:
- Pediatric Endocrinology
- Reproductive Medicine
- Developmental Biology
Background:
- Congenital hypogonadotropic hypogonadism (CHH) impairs the hypothalamic-pituitary-gonadal axis activation during mini-puberty in males.
- This condition can lead to micropenis, cryptorchidism, and other hormonal deficits in affected infants.
Purpose of the Study:
- To evaluate the efficacy and safety of gonadotropin replacement therapy for mini-puberty in male infants with CHH.
- To establish treatment recommendations for this condition.
Main Methods:
- A retrospective case series of 9 male infants diagnosed with CHH in the postnatal period.
- Early initiation of treatment with human chorionic gonadotropin (hCG) and recombinant follicle-stimulating hormone-alpha (rFSH-α) via discontinuous subcutaneous injections.
- Treatment administered between 2 weeks and 5 months of age.
Main Results:
- All patients showed significant increases in testosterone levels post-treatment.
- Positive clinical responses observed, including increased testicular volume and penis size in all cases.
- No requirement for adjunctive testosterone ester therapy and no adverse effects reported.
Conclusions:
- Gonadotropin replacement therapy is a safe and effective treatment for testicular and penile abnormalities in male infants with CHH.
- Early intervention during mini-puberty is crucial for optimal outcomes.
- The established treatment regimen provides a well-tolerated therapeutic option.
Abstract:
Background: 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. Methods: The patients included in this retrospective case series (n = 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. Results: 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. Conclusions: 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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