Publications by authors named "Julie Van De Velde"
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.
Objective: NR5A1 is a key regulator of sex differentiation and has been implicated in spleen development through transcription activation of TLX1. Concerns exist about hypo- or asplenism in individuals who have a difference of sex development (DSD) due to an NR5A1 disease-causing variant. We aimed to assess spleen anatomy and function in a clinical cohort of such individuals and in their asymptomatic family member carriers.
View Article and Find Full Text PDFBackground: Hypospadias affects around 1/200 newborn males. Intrauterine testicular dysfunction may underlie a subset of cases. The long-term endocrine and reproductive outcomes in these men remain largely unknown.
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