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Endocrine aspects of Klinefeltersyndrome Updated Browser Requirements In order to ensure optimal security your browser must support TLS 1.2 or later. To accomplish this, make sure you are meeting the requirements listed below. Contact support with additional questions at Chrome version 30 or greater Internet Explorer version 9 or greater. For versions 9-10, TLS 1.2 is disabled by default so you will need to enable it in the browser settings if this hasn’t already been done Microsoft Edge All
A Case of Familial Male-Limited Precocious Puberty in a Child With KlinefelterSyndrome Familial male-limited precocious puberty (FMPP) is an autosomal dominant, male-limited disorder that causes peripheral precocious puberty in boys. Klinefeltersyndrome (47, XXY) is the most common chromosomal aberration in males with associated infertility, hypogonadism, and learning disability. We report here a case of Klinefeltersyndrome in a patient with FMPP. A 6-year-old boy was referred to our (...) pediatric endocrinology department for accelerated linear growth and premature pubic hair development. He was diagnosed with FMPP based on clinical, laboratory, and genetic sequencing. Increased levels of gonadotropins prompted further investigation, leading to a subsequent diagnosis of Klinefeltersyndrome through karyotype analysis. This case illustrates that patients with FMPP and elevated gonadotropins should encourage further investigation by physicians. We recommend the use of karyotype analysis
Partnering with parents to disclose Klinefeltersyndrome to their child Partnering with parents to disclose Klinefeltersyndrome to their child - Tremblay - 2016 - Acta Paediatrica - Wiley Online Library The full text of this article hosted at iucr.org is unavailable due to technical difficulties.
Klinefeltersyndrome-a general practice perspective 38 REPRINTED FROM AUSTRALIAN FAMILY PHYSICIAN VOL. 43, NO. 1–2, JANUARY– FEBRUARY 2014 CLINICAL Background Klinefeltersyndrome (KS) is a common genetic condition affecting one in 450 men, but is only diagnosed in fewer than half of those affected. Objective To increase awareness among general practitioners of their role in the diagnosis and management of KS. Discussion KS has a highly varied phenotype comprising a range of physical (...) ). Klinefeltersyndrome (KS) is a common genetic condition, affecting one in 450 men. 1 KS is caused by the presence, in men, of one or more supernumerary X chromosomes. Most men with KS have a 47,XXY karyotype; 2–3 however 20% have a variant form, which most commonly is the presence of higher numbers of X chromosomes (eg. 48,XXXY), or mosaicism for two or more cell populations (eg. 46,XY/47,XXY). 2–3 Men with a mosaic picture typically present with a less severe phenotype than men with a 47,XXY karyotype. 4
Klinefelter'ssyndrome diagnosis and management Australian Clinical Practice Guidelines Toggle navigation Welcome to Australian Clinical Practice Guidelines An initiative of the NHMRC Looking for a clinical practice guideline? The Guidelines Portal provides a single entry point for access to clinical practice guidelines developed for use in Australian health care settings Developing a clinical practice guideline? Consider sharing information about your guideline in development by registering
Klinefelter'ssyndrome. Klinefelter'ssyndrome is the most common genetic cause of human male infertility, but many cases remain undiagnosed because of substantial variation in clinical presentation and insufficient professional awareness of the syndrome itself. Early recognition and hormonal treatment of the disorder can substantially improve quality of life and prevent serious consequences. Testosterone replacement corrects symptoms of androgen deficiency but has no positive effect (...) on infertility. However, nowadays patients with Klinefelter'ssyndrome, including the non-mosaic type, need no longer be considered irrevocably infertile, because intracytoplasmic sperm injection offers an opportunity for procreation even when there are no spermatozoa in the ejaculate. In a substantial number of azoospermic patients, spermatozoa can be extracted from testicular biopsy samples, and pregnancies and livebirths have been achieved. The frequency of sex chromosomal hyperploidy and autosomal