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A rare cause of delayed puberty and primary amenorrhea: 17α-hydroxylase enzyme deficiency

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Abstract

Aim

17α-hydroxylase enzyme deficiency is a rare form of congenital adrenal hyperplasia (CAH) and is caused by mutations in the CYP17A1 gene. The main clinical findings are delayed puberty and primary amenorrhea in girls, and disorders of sex development in boys. It can also cause hypertension and hypokalemia in both genders. In this study, we aimed to present the clinical, laboratory and genetic results of 13 patients from eight different families who were diagnosed with complete 17α-hydroxylase enzyme deficiency.

Methods

The age, symptoms, anthropometric measurements, blood pressure, Tanner stages, and hormonal and chromosome analysis results at the time of admission were recorded from the medical records of the patients. Whole gene next-generation sequencing of CYP17A1 gene was performed to detect mutations. Multiplex ligation dependent probe amplification (MLPA) method were used to detect deletions in the seven patients who had no point mutation were detected in the CYP17A1 gene.

Results

The average age of the patients at the time of admission was 14.8 (range: 12.9–16.6) years. Also at this time, all patients were in adolescence and were raised as females. The karyotypes of eight patients were 46,XY, and of five patients were 46,XX. Ten patients presented with delayed puberty and primary amenorrhea, one patient with delayed puberty and hypertension, and two patients with hypertension and/or hypokalemia. Hypertension and hypokalemia were detected in nine and seven patients, respectively.

Conclusions

P450c17 enzyme deficiency should be considered in patients presenting with delayed puberty or primary amenorrhea in the adolescence period and diagnosed with hypergonadotropic hypogonadism, if hypertension and hypokalemia accompany. Early diagnosis prevents the occurrence of important health problems such as hypertension, psychological problems, and gender identity disorders, which affect the majority of these patients.

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Data availability

Data is obtained from patient files.

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Author contributions

Surgical and medical practices: A.B., S.B., E.U., A.A.K., M.T., and Y.K.H. Concept: A.B., S.B., E.U., A.A.K., M.T., and Y.K.H. Design: A.B., S.B., E.U., A.A.K., R.E., and Y.K.H. Data collection or processing: A.B., S.B. Analysis or interpretation: A.B., S.B., E.U., R.E., and Y.K.H. Literature search: A.B., E.U., R.E. Writing: A.B., E.U.

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Authors and Affiliations

  1. Faculty of Medicine, Department of Pediatric Endocrinology, Dicle University, Diyarbakır, Turkey

    Aslı Beştaş, Edip Unal, Amine Aktar Karakaya & Yusuf Kenan Haspolat

  2. Department of Pediatric Endocrinology, Adıyaman Training and Research Hospital, Adıyaman, Turkey

    Semih Bolu

  3. Medical Faculty, Department of Medical Genetics, Duzce University, Duzce, Turkey

    Recep Eröz

  4. Department of Pediatrics, Adıyaman Training and Research Hospital, Adıyaman, Turkey

    Mehmet Tekin

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  1. Aslı Beştaş
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Correspondence to Aslı Beştaş.

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The authors declare no competing interests.

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This article does not contain any studies with human participants or animals performed by any of the authors. The study was performed in accordance with the rules of Declaration of Helsinki and approved by the Institutional Ethics Committee of Dicle University Medical School. The study was approved by the Dicle University Faculty of Medicine Clinical Research Ethics Committee (approval number: 2021/165).

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Beştaş, A., Bolu, S., Unal, E. et al. A rare cause of delayed puberty and primary amenorrhea: 17α-hydroxylase enzyme deficiency. Endocrine 75, 927–933 (2022). https://doi.org/10.1007/s12020-021-02914-8

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