Delayed puberty versus hypogonadism: a challenge for the pediatrician

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A Shared Genetic Basis for Self-Limited Delayed Puberty and Idiopathic Hypogonadotropic Hypogonadism

.................................................................................................................................. 4 GLOSSARY OF ABBREVIATIONS AND GENE NAMES .................................................... 6

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A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism.

CONTEXT Delayed puberty (DP) is a common issue and, in the absence of an underlying condition, is typically self limited. Alhough DP seems to be heritable, no specific genetic cause for DP has yet been reported. In contrast, many genetic causes have been found for idiopathic hypogonadotropic hypogonadism (IHH), a rare disorder characterized by absent or stalled pubertal development. OBJECTIVE...

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A Shared Genetic Basis for Self-Limited Delayed Puberty and Idiopathic Hypogonadotropic Hypogonadism

.................................................................................................................................. 4 GLOSSARY OF ABBREVIATIONS AND GENE NAMES .................................................... 6

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[A challenge for pediatrician: non allergic urticaria].

In general population about 15-20% of subjects have suffered from one episode of urticaria-angioedema syndrome in their life. The etiology of his condition is various and multifactorial. In children the principal cause of acute urticaria is infection, while physical factors are the main agents of chronic urticaria. All those conditions which lack an etiology are named chronic idiopathic urticar...

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FSHbeta gene mutation in a female with delayed puberty and hypogonadism: response to recombinant human FSH.

We report a woman with primary amenorrhoea and infertility associated with an isolated deficiency of pituitary FSH that does not respond to GnRH administration. Serum inhibin B was undetectable and antimullerian hormone (AMH) was within the normal range. Ultra sound examination revealed a small uterus and small ovaries with few small follicles. We identified an homozygous 1-bp (G) deletion at c...

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ژورنال

عنوان ژورنال: Annals of Pediatric Endocrinology & Metabolism

سال: 2018

ISSN: 2287-1012,2287-1292

DOI: 10.6065/apem.2018.23.2.57