DiGeorge Syndrome

What is DiGeorge Syndrome? DiGeorge syndrome is a genetic condition where a small part of chromosome 22 is missing. A patient with DiGeorge syndrome is missing…

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Turner Syndrome

Turner Syndrome: A Guide for Families What is Turner Syndrome? Turner syndrome is a genetic condition that affects 1 in every 2,000 to 2,500 live-born girls.…

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Klinefelter Syndrome

Klinefelter Syndrome: A Guide for Families What is Klinefelter Syndrome? It is a condition in boys caused by the presence of an extra X chromosome. Boys…

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Genetic Testing

Genetic Testing: A Guide for Families What is Genetic Testing? Genetic testing looks for changes in the structure of an individual’s genes. Genes are the DNA…

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Endocrine Aspects of Klinefelter Syndrome (Curr Opin End Diabetes Obes. 2019 Feb)

A detailed review of endocrine aspects of Klinefelter Syndrome.

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Child with Suspected Klinefelter Syndrome

Primary Care provider guidelines for referral.

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Child with Suspected Turner Syndrome

Primary Care provider guidelines for referral.

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Improved Mental and Motor Development During 3 Years of GH Treatment in Very Young Children With Prader-Willi Syndrome (JCEM 2018)

A prospective cohort study showing Improved Mental and Motor Development During 3 Years of GH Treatment in Very Young Children With Prader-Willi Syndrome.

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Review of Prader-Willi Syndrome: The Endocrine Approach (Transl Pediatr. 2017)

A review of the current literature pertaining to the endocrine concerns of Prader Willi Syndrome and current recommendations for screening and management of these conditions.

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Clinical Practice Guidelines for the Care of Girls and Women with Turner Syndrome: Proceedings from the 2016 Cincinnati International TS Meeting (Eur J Endocrinol. 2017)

This paper is based on an international effort that started with exploratory meetings in 2014 in both Europe and the USA, and culminated with a Consensus…

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