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Case report
Partial deficiency of 17α-hydroxylase: a rare cause of congenital adrenal hyperplasia
  1. Sílvia Cristina de Sousa Paredes,
  2. Olinda Marques and
  3. Marta Alves
  1. Endocrinology, Hospital de Braga, Braga, Portugal
  1. Correspondence to Dr Sílvia Cristina de Sousa Paredes; silvia.sparedes{at}


Congenital adrenal hyperplasia (CAH) due to 17α-hydroxylase deficiency, a rare CAH syndrome, is characterised by failure to synthetise cortisol, adrenal androgens and gonadal steroids. The partial deficiency is much rarer, presenting with subtler symptoms. Failure to reach a proper diagnosis causes inappropriate hypertension treatment and impairs the development of secondary sexual characteristics. We report a case of a 30-year-old woman transferred to an endocrinology clinic for evaluation of autoimmune thyroiditis. She was started on oral contraceptives at the age of 13 due to oligomenorrhea and presented underdeveloped pubic and axillar hair and Tanner stage 3 breast development. Biochemical tests evidenced very low androgens levels and genetic analysis confirmed a CAH due to 17α-hydroxylase deficiency. Partial 17α-hydroxylase deficiency is a rare clinical entity, nevertheless, it should be included in the differential diagnosis of menstrual disorders.

  • adrenal disorders
  • metabolic disorders

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  • Contributors SCSP and MA evaluated and diagnosed the patient. SCSP drafted the work and MA and OM revised it critically for important intellectual content.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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