Publications by authors named "J Y Kurzenne"
Background: Chromosome 8p deletions are associated with a variety of conditions, including cardiac abnormalities, mental, behavioral problems with variable morphotype and genitourinary anomalies in boys.
Methods: We describe the follow-up over almost 15 years of a boy who initially presented with perineal hypospadias with a micropenis and cryptorchidism with 46,XY DSD.
Results: Imaging, pathology, and hormonal exploration suggested gonadal dysgenesis.
Article Synopsis
- A study in southern France explored the link between exposure to endocrine-disrupting chemicals (EDCs) and isolated hypospadias in children, finding a significant association between increased fetal exposure to EDCs and the occurrence of this condition.
- The research involved 408 children with isolated hypospadias and 302 healthy boys, assessing parental occupational and environmental exposures to EDCs using questionnaires and job-exposure matrices, particularly focusing on the period during which genital differentiation occurs.
- Results indicated that fetal exposure to EDCs was much higher in hypospadias cases (40%) compared to controls (17%), with mothers in specific occupations like cleaning and hairdressing showing increased exposure levels.
A population of fibro/adipogenic but non-myogenic progenitors located between skeletal muscle fibers was recently discovered. The aim of this study was to determine the extent to which these progenitors differentiate into fully functional adipocytes. The characterization of muscle progenitor-derived adipocytes is a central issue in understanding muscle homeostasis.
View Article and Find Full Text PDFBackground: Androgens are critical in male external genital development. Alterations in the androgen sensitivity pathway have been identified in severely undermasculinized boys, and mutations of the androgen receptor gene (AR) are usually found in partial or complete androgen insensitivity syndrome (AIS).
Objective: The aim of this study was to determine whether even the most minor forms of isolated hypospadias are associated with AR mutations and thus whether all types of hypospadias warrant molecular analysis of the AR.
Context: Although a rare occurrence, previously undiagnosed disorders of sex development (DSD) with hyperandrogenism are sometimes detected by hormonal screening during the international sports competitions. Identifying the cause of XY,DSD raises medical and ethical concerns, especially with regard to issues of the eligibility to compete.
Objective: The aim of this study was to determine whether the detection of high plasma T in young elite female athletes during hormonal screening would reveal an unsuspected XY DSD.