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Background: Cryptorchidism is the absence of one or both testicles in the scrotum at birth, being a risk factor for testis cancer and infertility. The most effective method to treat cryptorchidism is orchiopexy, followed by human chorionic gonadotropin (hCG) therapy; however, a portion of treated patients do not show a significant improvement in testis volume and vascularization after adjuvant therapy.

Methods: In this study, we generated an in vitro model to predict the patient response to hCG by cultivating and treating primary cells derived from five cryptorchid patients' biopsies of gubernaculum testis, the ligament that connects the testicle to the scrotum.

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Coevolution and Adaptation of Transition Nuclear Proteins and Protamines in Naturally Ascrotal Mammals Support the Black Queen Hypothesis.

Genome Biol Evol

December 2024

Southern Marine Science and Engineering Guangdong Laboratory (Guangzhou), Guangzhou, Guangdong, China.

Protamines (PRMs) and transition nuclear proteins (TNPs) are two key classes of sperm nuclear basic proteins that regulate chromatin reorganization and condensation in the spermatozoon head, playing crucial roles in mammalian spermatogenesis. In scrotal mammals, such as humans, cryptorchidism, the failure of the testes to descend into the scrotal sac is generally associated with higher rates of defective spermatozoon quality and function. However, ascrotal mammals, such as cetaceans, with naturally undescended testes, produce normal spermatozoa similar to their scrotal counterparts.

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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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Article Synopsis
  • RXFP2 disruption has been linked to male infertility, specifically through biallelic variants causing spermatogenic arrest at the spermatid stage.
  • Past studies have shown RXFP2 is crucial for testicular descent and may also influence postnatal spermatogenesis, although its exact role has been unclear.
  • In a family with male infertility and a history of cryptorchidism, genetic analysis revealed significant RXFP2 mutations, which correlated with impaired fertility and demonstrated a loss-of-function in cAMP signaling related to INSL3.
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