Delphine Zenaty

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BACKGROUND Primary amenorrhea due to 46,XY disorders of sex differentiation (DSD) is a frequent reason for consultation in endocrine and gynecology clinics. Among the genetic causes of low-testosterone primary amenorrhea due to 46,XY DSD, SRY gene is reported to be frequently involved, but other genes, such as SF1 and WT1, have never been studied for their(More)
Kallmann syndrome characterised by hypogonadotropic hypogonadism (HH) and anosmia is genetically heterogeneous with X-linked, autosomal dominant and autosomal recessive forms. The autosomal dominant form due to loss of function mutation in the fibroblast growth factor receptor 1 (FGFR1) accounts for about 10% of cases. We report here three paediatric cases(More)
Precocious pubertal is frequent and should lead to a rigorous evaluation. It is important to precisely evaluate the timing of pubertal development, and to search for an hypothalamic lesion in cases of central precocious puberty. It is also important to recognize that many cases of precocious puberty will not progress and therefore do not need treatment.(More)
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