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A challenging case of primary amenorrhoea
Vijaya Sarathi1, Ramesh Reddy2, Sridevi Atluri1
1Endocrinology, Vydehi Institute of Medical Sciences and Research Centre, Bangalore, Karnataka, India.
BMJ Case Reports
|July 14, 2018
Summary
This case study highlights a diagnostic challenge in a 46XY disorder of sex development (DSD) patient presenting with primary amenorrhea. Genetic testing revealed CYP17A1 deficiency, a rare condition causing hormonal imbalances.
Area of Science:
- Endocrinology
- Genetics
- Reproductive Medicine
Background:
- Primary amenorrhea necessitates a broad differential diagnosis, including disorders of sex development (DSD).
- 46XY DSD individuals, often raised as girls, present diagnostic challenges, particularly with ambiguous genitalia or lack of secondary sexual characteristics.
- Spontaneous breast development can complicate the initial diagnostic pathway.
Observation:
- A patient with 46XY karyotype presented with primary amenorrhoea and spontaneous breast development.
- Initial presentation mimicked complete androgen insensitivity syndrome, but low testosterone levels prompted further investigation.
Findings:
- Hormonal analysis revealed findings consistent with 17α-hydroxylase/17,20-lyase (CYP17A1) deficiency.
- Genetic analysis identified a likely pathogenic homozygous c.1345C>T (p.Arg449Cys) variation in the CYP17A1 gene.
Implications:
- Accurate diagnosis of 46XY DSD is crucial for appropriate management and genetic counseling.
- This case underscores the importance of comprehensive hormonal and genetic evaluation in complex DSD presentations.
- Understanding CYP17A1 deficiency is vital for managing patients with primary amenorrhoea and DSD.
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