2024 | Julia Rohayem, Emma C. Alexander, Sabine Heger, Anna Nordenström, and Sasha R. Howard
The article "Mini-Puberty, Physiological and Disordered: Consequences, and Potential for Therapeutic Replacement" by Julia Rohayem, Emma C. Alexander, Sabine Heger, Anna Nordenström, and Sasha R. Howard, reviews the physiological waves of the hypothalamic-pituitary-gonadal (HPG) axis activity and their significance in male and female development. The first wave occurs during fetal life, the second during the first few months after birth (termed "mini-puberty"), and the third at puberty. Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disorder characterized by a deficiency in hypothalamic gonadotropin-releasing hormone (GnRH) secretion or action, leading to absent or disordered mini-puberty. This can result in micropenis and cryptorchidism in male newborns, affecting testicular immaturity and future fertility. The authors discuss the diagnostic challenges and the lack of consensus on optimal therapeutic management for CHH. They highlight the potential benefits of using gonadotropins to mimic mini-puberty, which could improve testicular descent, testis and penile sizes, and reproductive capacity. The review also covers the genetic basis of CHH, the impact of environmental factors on mini-puberty, and the importance of early identification and treatment to optimize patient care and health outcomes.The article "Mini-Puberty, Physiological and Disordered: Consequences, and Potential for Therapeutic Replacement" by Julia Rohayem, Emma C. Alexander, Sabine Heger, Anna Nordenström, and Sasha R. Howard, reviews the physiological waves of the hypothalamic-pituitary-gonadal (HPG) axis activity and their significance in male and female development. The first wave occurs during fetal life, the second during the first few months after birth (termed "mini-puberty"), and the third at puberty. Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disorder characterized by a deficiency in hypothalamic gonadotropin-releasing hormone (GnRH) secretion or action, leading to absent or disordered mini-puberty. This can result in micropenis and cryptorchidism in male newborns, affecting testicular immaturity and future fertility. The authors discuss the diagnostic challenges and the lack of consensus on optimal therapeutic management for CHH. They highlight the potential benefits of using gonadotropins to mimic mini-puberty, which could improve testicular descent, testis and penile sizes, and reproductive capacity. The review also covers the genetic basis of CHH, the impact of environmental factors on mini-puberty, and the importance of early identification and treatment to optimize patient care and health outcomes.