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Submitted: 05 April 2017 Modified: 07 April 2017
HERDIN Record #: PCHRD17040510304229

Turner syndrome with pseudohypoparathyroidism: A case report.

2Abhinav Gupta,
3Deepak Gupta,
5Keshav Gupta
Department of Endocrinology and Human Metabolism - Lala Lajpat Rai Memorial Medical College,

Abstract

The association of Pseudohypoparathyroidism (PHP) with Turner syndrome is very rare and only a single case has been reported so far. Both manifest with short stature and lack of secondary sexual characteristics along with other stigmata similar to each other, creating a diagnostic dilemma.
We describe a case of a 15-year-old Asian Indian female who presented with short stature and delayed puberty with overlapping phenotype of PHP and Turner syndrome. The diagnosis of Turner syndrome was made easily on the basis of typical history, clinical features and karyotype but the diagnosis of PHP was suspected only after radiological and biochemical investigations. The association of Turner syndrome with PHP can be easily missed due to similar phenotypes and subtle manifestations.

1.
Publication Type:
Journal
Publication Sub Type:
Case report
Title:
Journal of the ASEAN Federation of Endocrine Societies
Frequency:
Semi-Annual
Publication Date:
November 2016
Volume:
31
Issue:
2
Page(s):
155-159
Publisher:
ASEAN Federation of Endocrine Societies

LocationCall NumberAvailable FormatAvailability
Philippine Council for Health Research and Development Library Box No.116 Fulltext Print Format (Request Document)