ArticleBMJ case reports2018
A challenging case of primary amenorrhoea.
Article in BMJ case reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
5 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Bilateral breast nodules as an unusual manifestation of 17α-hydroxylase/17,20-lyase deficiency.Frontiers in endocrinology · 2025Pooled it
- Review
- Frequency, clinical presentation and management of primary amenorrhea in a tertiary care setting.Pakistan journal of medical sciences · 2024Article
- 17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort.Endocrine · 2024Article
- 17α-Hydroxylase/17,20-Lyase Deficiency in 46,XY: Our Experience and Review of Literature.Journal of the Endocrine Society · 2022Article
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
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
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Registered trials
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