17[alpha]-Hydroxylase deficiency: from a rare presentation in infancy to transition to adult care

Ramadan Mennatullah Moamen; Tiziana Abbate; Bacila Irina A; Chidambaram Sethuraman; Neil Wright; Alaa Baioumi

doi:10.1530/endoabs.111.P9

P9

Prev Next

Section Contents Cite

Endocrine Abstracts (2025) 111 P9 | DOI: 10.1530/endoabs.111.P9

BSPED2025 Poster Presentations Adrenal 1 (10 abstracts)

17α-Hydroxylase deficiency: from a rare presentation in infancy to transition to adult care

Mennatullah Moamen Ramadan ^1,2 , Tiziana Abbate ^3,4 , Irina A Bacila ^4,5 , Chidambaram Sethuraman ⁴ , Neil Wright ⁴ & Alaa Baioumi ^4,6

Author affiliations

¹Paediatrics Department, Faculty of Medicine, Sohag University, Sohag, Egypt; ²Paediatric Endocrinology and Diabetes Department, Sheffield Children’s Hospital NHS Foundation Trust, Sheffield, United Kingdom; ³Paediatric Unit, Department of Human Pathology of Adulthood and Childhood “G. Barresi”, University of Messina, Messina, Italy; ⁴Paediatric Endocrinology and Diabetes Department, Sheffield Children’s Hospital NHS Foundation Trust, Sheffield, United Kingdom; ⁵Division of Clinical Medicine, School of Medicine and Population Health, University of Sheffield, Sheffield, United Kingdom; ⁶Paediatrics Department, Ain Shams University, Cairo, Egypt

Introduction: 17α-hydroxylase deficiency (17OHD) is a rare autosomal recessive disorder caused by biallelic mutations in the CYP17A1 gene, accounting for approximately 1% of cases of congenital adrenal hyperplasia. It commonly presents with primary amenorrhoea, cryptorchidism, and atypical genitalia, while adrenal crisis is a rare occurrence. Here, we describe a case of 17OHD presenting at 10 months with hypoglycaemia.

Case presentation: A 10-month-old girl of consanguineous parents presented to the Emergency Department with diarrhoea, vomiting, and dehydration, caused by rotavirus infection. She had normal female external genitalia with a gonad palpable in the right inguinal canal. Investigations revealed hypoglycaemia (1.7 mmol/l) with hypokalaemia (3.1 mmol/l), with low serum cortisol (106 nmol/l). A standard Synacthen test showed a peak cortisol of 53 nmol/l and raised ACTH (175 ng/l). The workup for adrenal insufficiency revealed low androgen and cortisol metabolites, along with elevated corticosterone metabolites in the urinary steroid profile (USP), confirming 17OHD. The patient was started on hydrocortisone, with good clinical progress. There were no further episodes of hypoglycaemia or adrenal crises, and renin normalised. The karyotype was 46 XY. The patient was reared as female and underwent cystovaginoscopy and bilateral laparoscopic gonadectomy at 2.5 years. She was started on 17βoestradiol patches at 11 years to support secondary sexual characteristics. The patient had a gynaecological assessment to determine the need for vaginal dilatation. She is currently a teenager with a final height consistent with her parental target, ready for transition to adult services. Her sisters were screened by checking their karyotype and USP to exclude a similar diagnosis. Genetic testing is planned to determine their carrier status.

Conclusion: Patients with 17OHD are often diagnosed during adolescence following investigations for hypertension or delayed puberty. Our case had an atypical presentation with infantile hypoglycaemia. Management consisted of hydrocortisone replacement with monitoring of blood pressure, renin, and aldosterone, and hormone replacement therapy at the expected age of puberty. This case highlights the implications of this diagnosis for family members and the importance of involvement of the multidisciplinary team to support gender identity decisions, gonadectomy timing, hormone replacement, and psychosocial adjustment.