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Endocrine aspects of Klinefeltersyndrome Endocrine aspects of Klinefeltersyndrome Issn Print: Model.IssnPrint Publication Date: 2019/02/01 Endocrine aspects of Klinefeltersyndrome Adriana Lizarazo;Michelle McLoughlin;Maria Vogiatzi; Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA Checking for direct PDF access through Ovid Abstract Purpose of review Klinefeltersyndrome is the most common sex chromosome abnormality in men. Hypogonadism (...) and testicular degeneration are almost universal. Truncal adiposity, metabolic syndrome and low bone mass occur frequently. This review summarizes the most recent advances in the pathogenesis and management of the endocrine abnormalities in Klinefeltersyndrome. It is expected that optimal endocrine management will improve outcomes and quality of life in Klinefeltersyndrome. Recent findings In Klinefeltersyndrome, testosterone replacement is routinely prescribed despite lack of evidence on the optimal dose
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 (...) and psychosocial features and comorbidities. For patients diagnosed with KS, a range of management strategies can be used to improve health outcomes and quality of life. Keywords Klinefeltersyndrome; genetics; men’s health Klinefeltersyndrome: a general practice perspective demonstrated a broader phenotypic spectrum of KS with no single presentation. 5–9 The physical characteristics, psychosocial difficulties and comorbidities shown by individuals with KS are highly varied, and this should be borne in mind
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