5 citations
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January 2002 in “European journal of pediatrics” "D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
12 citations
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January 2016 in “Endocrinology, diabetes & metabolism case reports” This report describes a 19-year-old male with 49,XXXXY syndrome receiving testosterone replacement therapy, which led to improvements in reproductive development, metabolism, and social interaction after a year of treatment.
9 citations
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November 2014 in “Indian Journal of Endocrinology and Metabolism” This case report describes a young female with a rare combination of 46,XX gonadal dysgenesis and MRKH syndrome, highlighting associated infertility challenges.
2 citations
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March 2011 in “Infertility” This review highlights that while lifestyle changes may help with many ovulatory disorders, oocyte donation is considered a viable option for patients who cannot undergo ovulation induction; it reports no new results.
This case report describes a 33-year-old Kashmiri woman with Woodhouse-Sakati syndrome who has a rare DCAF17 gene mutation, c.321+1G>A, providing further evidence for its role in the genetic basis of this neuroendocrine disorder.