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Female phenotype with male karyotype: a clinical enigma
  1. Suja Sukumar1,2,
  2. Pavan Uppula1,
  3. Santosh Kumar3,
  4. Anil Bhansali1
  1. 1 Department of Endocrinology, Postgraduate Institute of Medical Education and Research, Chandigarh, India
  2. 2 Department of Endocrinology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India
  3. 3 Department of Urology, Postgraduate Institute of Medical Education and Research, Chandigarh, India
  1. Correspondence to Dr Anil Bhansali, anilbhansaliendocrine{at}


Development of gonadal and phenotypic sex during embryogenesis invariably corresponds to the genotypic sex. However, some disorders of sex development are associated with discordance between the chromosomal, gonadal or phenotypic sex which include complete androgen insensitivity syndrome, 46XY complete gonadal dysgenesis (Swyer syndrome) and, rarely, congenital adrenal hyperplasia due to CYP 17A1 (17α-hydroxylase) deficiency. The enzyme CYP17A1 includes 17α-hydroxylase and 17,20-lyase which are required for the synthesis of cortisol and sex steroids, respectively. The consequent cortisol deficiency results in a compensatory increase in adrenocorticotropic hormone (ACTH) drive, which stimulates the production of deoxycorticosterone and corticosterone leading to hypertension and hypokalaemia. Concurrent lack of sex steroids results in sexual infantilism without ambiguity. Both the genotypic males and females present during adolescence with a female phenotype, sexual infantilism and hypertension depending on the severity of the enzyme deficiency. We describe a case of CYP17A1 deficiency in a phenotypic female with 46XY karyotype who presented with sexual infantilism but without hypertension.

  • urinary and genital tract disorders
  • endocrine system
  • congenital disorders

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  • Contributors SS wrote the manuscript.

    PU investigated the patient and helped in the management of her case.

    SK was responsible for surgical management of the case.

    AB supervised the management of the case and edited the manuscript.

  • Competing interests None declared.

  • Patient consent Obtained from guardian.

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