Multidisciplinary Team Management of 46,XY 17α-hydroxylase Deficiency: a Case Report and Literature Review

Overview

Journal J Int Med Res

Publisher Sage Publications

Specialty General Medicine

Date 2021 Mar 25

PMID 33761789

Citations 5

Authors

Yang Zhou

Xue Xue

Panpan Shi

Qinrui Lu

Shulan Lv

Affiliations

Soon will be listed here.

Abstract

Background: We report here a case study of 17α-hydroxylase deficiency in a phenotypic girl with male karyotype (46,XY). We also review the relevant literature to deepen our understanding of the disease, reduce the rate of missed diagnosis, and emphasize that holistic management of this disease requires collaborative multidisciplinary teamwork.

Case Presentation: A 14-year-old patient with a female phenotype visited the endocrinology department because of hypertension. The patient had primary amenorrhea and lacked secondary sexual characteristics. Initial laboratory evaluation revealed normal levels of electrolytes, a hypergonadotropic hypogonadal state with high progesterone and low testosterone levels, and a 46,XY karyotype. She was referred to the urology department for gonadectomy and transferred to the gynecological endocrine clinic. On the basis of the patient's medical history and genetic testing results, a diagnosis of 46,XY 17α-hydroxylase deficiency was made. The patient was provided with glucocorticoids, estrogens, metformin, and psychological support.

Conclusions: Patients with 17α-hydroxylase deficiency, a rare cause of congenital adrenal hyperplasia, should be treated by a multidisciplinary team. Relevant experts from different disciplines should set up a systematic and comprehensive individualized management plan to optimize the physical and mental health and quality of life of affected patients.

Citing Articles

Seminoma in a 46, XY patient with 17α-hydroxylase deficiency.

Maekawa K, Shimizu Y, Hayashi K, Hatano S, Miyauchi Y, Sakurai T IJU Case Rep. 2024; 7(4):329-332.

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Fertility and pregnancy in adrenal insufficiency.

Green D, Dineen R, OReilly M, Sherlock M Endocr Connect. 2023; 13(2).

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Case report: Management challenges of late diagnosed 17-alpha hydroxylase deficiency.

Ben Salah D, Trimeche O, Elleuch M, El Abed W, Salah A, Abdelhadi F Clin Case Rep. 2023; 11(2):e6962.

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Dysgerminoma in a 15 years old phenotypically female Swyer syndrome with 46, XY pure gonadal dysgenesis: A case report.

Ashraf Ganjooei T, Pirastehfar Z, Mosallanejad A, Raoufi M, Moghaddam N, Hashemieh M Clin Case Rep. 2022; 10(7):e6083.

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Cytochrome P450 family 17 subfamily A member 1 mutation causes severe pseudohermaphroditism: A case report.

Gong Y, Qin F, Li W, Li L, He P, Zhou X World J Clin Cases. 2022; 10(11):3553-3560.

PMID: 35611191 PMC: 9048556. DOI: 10.12998/wjcc.v10.i11.3553.

References

Gagnier J, Kienle G, Altman D, Moher D, Sox H, Riley D . The CARE guidelines: consensus-based clinical case reporting guideline development. BMJ Case Rep. 2013; 2013. PMC: 3822203. DOI: 10.1136/bcr-2013-201554. View

Breder I, Garmes H, Mazzola T, Maciel-Guerra A, de Mello M, Guerra-Junior G . Three new Brazilian cases of 17α-hydroxylase deficiency: clinical, molecular, hormonal, and treatment features. J Pediatr Endocrinol Metab. 2018; 31(8):937-942. DOI: 10.1515/jpem-2017-0521. View

Ahmed S, Achermann J, Arlt W, Balen A, Conway G, Edwards Z . Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015). Clin Endocrinol (Oxf). 2015; 84(5):771-88. PMC: 4855619. DOI: 10.1111/cen.12857. View

Verp M, Simpson J . Abnormal sexual differentiation and neoplasia. Cancer Genet Cytogenet. 1987; 25(2):191-218. DOI: 10.1016/0165-4608(87)90180-4. View

Cools M, Nordenstrom A, Robeva R, Hall J, Westerveld P, Fluck C . Caring for individuals with a difference of sex development (DSD): a Consensus Statement. Nat Rev Endocrinol. 2018; 14(7):415-429. PMC: 7136158. DOI: 10.1038/s41574-018-0010-8. View

Brooke A, Taylor N, Shepherd J, Gore M, Ahmad T, Lin L . A novel point mutation in P450c17 (CYP17) causing combined 17alpha-hydroxylase/17,20-lyase deficiency. J Clin Endocrinol Metab. 2006; 91(6):2428-31. DOI: 10.1210/jc.2005-2653. View

Chung B, Haniu M, Bienkowski M, Hall P, Shively J, Miller W . Cytochrome P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase): cloning of human adrenal and testis cDNAs indicates the same gene is expressed in both tissues. Proc Natl Acad Sci U S A. 1987; 84(2):407-11. PMC: 304216. DOI: 10.1073/pnas.84.2.407. View

Martin R, Lin C, Costa E, de Oliveira M, Carrilho A, Villar H . P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping. J Clin Endocrinol Metab. 2003; 88(12):5739-46. DOI: 10.1210/jc.2003-030988. View

Abaci A, Catli G, Berberoglu M . Gonadal malignancy risk and prophylactic gonadectomy in disorders of sexual development. J Pediatr Endocrinol Metab. 2015; 28(9-10):1019-27. DOI: 10.1515/jpem-2014-0522. View

10.

Yanase T, Simpson E, Waterman M . 17 alpha-hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition. Endocr Rev. 1991; 12(1):91-108. DOI: 10.1210/edrv-12-1-91. View

11.

Han B, Liu W, Zuo C, Zhu H, Li L, Xu C . Identifying a novel mutation of CYP17A1 gene from five Chinese 17α-hydroxylase/17, 20-lyase deficiency patients. Gene. 2013; 516(2):345-50. DOI: 10.1016/j.gene.2012.12.010. View

12.

Finkielstain G, Kim M, Sinaii N, Nishitani M, Van Ryzin C, Hill S . Clinical characteristics of a cohort of 244 patients with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2012; 97(12):4429-38. PMC: 3513542. DOI: 10.1210/jc.2012-2102. View

13.

Camtosun E, Siklar Z, Ceylaner S, Kocaay P, Berberoglu M . Delayed Diagnosis of a 17-Hydroxylase/17,20-Lyase Deficient Patient Presenting as a 46,XY Female: A Low Normal Potassium Level Can Be an Alerting Diagnostic Sign. J Clin Res Pediatr Endocrinol. 2016; 9(2):163-167. PMC: 5463290. DOI: 10.4274/jcrpe.3839. View

14.

Olson C, Crudo D . Pubertal delay, hypokalemia, and hypertension caused by a rare form of congenital adrenal hyperplasia. J Pediatr Adolesc Gynecol. 2010; 24(2):e29-31. DOI: 10.1016/j.jpag.2010.08.018. View

15.

Pyle L, Nathanson K . A practical guide for evaluating gonadal germ cell tumor predisposition in differences of sex development. Am J Med Genet C Semin Med Genet. 2017; 175(2):304-314. PMC: 5538907. DOI: 10.1002/ajmg.c.31562. View

16.

Zhang M, Sun S, Liu Y, Zhang H, Jiao Y, Wang W . New, recurrent, and prevalent mutations: Clinical and molecular characterization of 26 Chinese patients with 17alpha-hydroxylase/17,20-lyase deficiency. J Steroid Biochem Mol Biol. 2015; 150:11-6. DOI: 10.1016/j.jsbmb.2015.02.007. View

17.

Mandviwala T, Khalid U, Deswal A . Obesity and Cardiovascular Disease: a Risk Factor or a Risk Marker?. Curr Atheroscler Rep. 2016; 18(5):21. DOI: 10.1007/s11883-016-0575-4. View

18.

Keskin M, Kilinc Ugurlu A, Savas-Erdeve S, Sagsak E, Akyuz S, Cetinkaya S . 17α-Hydroylase/17,20-lyase deficiency related to P.Y27*(c.81C>A) mutation in CYP17A1 gene. J Pediatr Endocrinol Metab. 2015; 28(7-8):919-21. DOI: 10.1515/jpem-2014-0444. View

19.

van der Zwan Y, Biermann K, Wolffenbuttel K, Cools M, Looijenga L . Gonadal maldevelopment as risk factor for germ cell cancer: towards a clinical decision model. Eur Urol. 2014; 67(4):692-701. DOI: 10.1016/j.eururo.2014.07.011. View

20.

Wu C, Fan S, Qian Y, Zhou Y, Jin J, Dai Z . 17α-HYDROXYLASE/17, 20-LYASE DEFICIENCY: CLINICAL AND MOLECULAR CHARACTERIZATION OF EIGHT CHINESE PATIENTS. Endocr Pract. 2017; 23(5):576-582. DOI: 10.4158/EP161610.OR. View