A challenging case of primary amenorrhoea

BMJ Case Reports
Vijaya SarathiChannabasappa Shivaprasad

Abstract

The differential diagnosis of a girl presenting with primary amenorrhoea includes numerous conditions. Often, patients of 46XY disorder of sex development (DSD) are reared as girl and present with primary amenorrhoea. Their further evaluation to reach the final diagnosis is often a great challenge. In this article, we report a challenging case of 46XY DSD presented with primary amenorrhoea. Patient had spontaneous breast development which initially confused the diagnosis to complete androgen insensitivity syndrome. However, low testosterone suggested against this possibility and further evaluation revealed hormonal findings consistent with 17α hydroxylase/17,20 lyase (CYP17A1) deficiency. Patient had 46XY karyotype and in consistence with hormonal findings patient was found to have a likely pathogenic homozygous c.1345C>T (p.Arg449Cys) variation in exon 8 of CYP17A1.

References

Sep 25, 2004·The Australian & New Zealand Journal of Obstetrics & Gynaecology·Jim PhilipMandalam S Seshadri
Jul 7, 2011·Indian Journal of Endocrinology and Metabolism·Sunil Kumar KotaSurya Narayan Mandal
Aug 19, 2011·Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology·Qinjie TianJinghe Lang
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May 11, 2017·BMJ Case Reports·Suja SukumarAnil Bhansali

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Citations

Jul 12, 2020·Journal of Pediatric Endocrinology & Metabolism : JPEM·Adlyne Reena AsirvathamShriraam Mahadevan

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