Login Register Cart 0
Generic placeholder image

Endocrine, Metabolic & Immune Disorders - Drug Targets

Editor-in-Chief

ISSN (Print): 1871-5303
ISSN (Online): 2212-3873

Back
Journal Home About Journal Editorial Board Journal Insight Current Issue Volumes/Issues
Subscribe
Case Report

Two Cases with 17-alpha Hydroxylase Deficiency Misdiagnosed as Primary Aldosteronism

Author(s): Gamze Akkus*

Volume 23, Issue 11, 2023

Published on: 05 June, 2023

Page: [1449 - 1454] Pages: 6

DOI: 10.2174/1871530323666230407125523

Price: $65

Abstract

Aim: Lack of CYP17A1 prevents sex steroid biosynthesis, yielding a female phenotype in 46, XY males and sexual infantilism in both sexes; overproduction of 11-deoxycorticosterone (DOC) in the zona fasciculata typically causes mineralocorticoid hypertension. In this study, we report two cases of severe hypokalemia, hyperaldosteronism, and sexual infantilism.

Case Presentation: Case 1 admitted severe hypertension and hypokalemia with female external genitalia with 46, XY. The patient also had right adrenal masses of 35*30 mm diameters. Case 2 was presented with delayed pubertal development with 46, XX genotype. In addition, she had severe hypertension and hypokalemia with nodular surrenal hyperplasia in her abdomen imaging.

Methods: Further hormonal and biochemical results were followed as elevated adrenocorticotropic hormone (ACTH) levels, low serum cortisol, 17 hydroxy progesterone (17 OHP) and dehydroepiandrosterone sulphate (DHESO4) and estradiol (E2) levels in both cases.

Results: Genetical analyses confirmed 17 OHP deficiency in both cases.

Conclusion: The condition of patients with 17 alpha-hydroxylase deficiency may substantially resemble primary hyperaldosteronism and must be considered in patients as primary hypogonadism (and) associated with mineralocorticoid hypertension.

« Previous Next »
Graphical Abstract

[1]
Kardelen, A.D.; Toksoy, G.; Baş, F.; Yavaş Abalı, Z.; Gençay, G.; Poyrazoğlu, Ş.; Bundak, R.; Altunoğlu, U.; Avcı, Ş.; Najaflı, A.; Uyguner, O.; Karaman, B.; Başaran, S.; Darendeliler, F. A rare cause of congenital adrenal hyperplasia: clinical and genetic findings and follow-up characteristics of six patients with 17-hydroxylase deficiency including two novel mutations. J. Clin. Res. Pediatr. Endocrinol., 2018, 10(3), 206-215.
[http://dx.doi.org/10.4274/jcrpe.0032] [PMID: 29595516]
[2]
Xia, J.; Liu, F.; Wu, J.; Xia, Y.; Zhao, Z.; Zhao, Y.; Ren, H.; Kong, X. Clinical and genetic characteristics of 17 alpha-hydroxylase/17, 20-lyase deficiency: c.985_987delTACinsAA mutation of CYP17A1 prevalent in the Chinese Han population. Endocr. Pract., 2021, 27(2), 137-145.
[http://dx.doi.org/10.4158/EP-2020-0478] [PMID: 33547012]
[3]
Espinosa-Herrera, F.; Espín, E.; Tito-Álvarez, A.M.; Beltrán, L.J.; Gómez-Correa, D.; Burgos, G.; Llamos, A.; Zurita, C.; Rojas, S.; Dueñas-Espín, I.; Cueva-Ludeña, K.; Salazar-Vega, J.; Pinto-Basto, J. A report of congenital adrenal hyperplasia due to 17α-hydroxylase deficiency in two 46,XX sisters. Gynecol. Endocrinol., 2020, 36(1), 24-29.
[http://dx.doi.org/10.1080/09513590.2019.1650342] [PMID: 31464148]
[4]
Podgórski, R.; Aebisher, D.A.; Stompor, M.; Podgórska, D.; Mazur, A. Congenital adrenal hyperplasia: Clinical symptoms and diagnostic methods. Acta Biochim. Pol., 2018, 65(1), 25-33.
[http://dx.doi.org/10.18388/abp.2017_2343] [PMID: 29543924]
[5]
Han, B.B.; Zheng, R.Z.; Xie, Y.D.; Chen, Y.Q.; Niu, J.P.; Zhang, Y. Clinical characteristics and CYP17A1 gene mutation analysis in patients with 17α-hydroxylase/17, 20-lyase deficiency and testicular tumor. Zhonghua Nei Ke Za Zhi, 2021, 60(9), 827-830.
[PMID: 34445820]
[6]
Nazari, M.; Yahya, V.M., M.; Neghab, N.; Aghabagheri, M.; Ghasemi, N. A novel mutation in CYP17A1 gene leads to congenital adrenal hyperplasia: A case report. Int. J. Reprod. Biomed., 2019, 17(6), 449-454.
[http://dx.doi.org/10.18502/ijrm.v17i6.4817] [PMID: 31508570]
[7]
Britten, F.L.; Ulett, K.B.; Duncan, E.L.; Perry-Keene, D.A. Primary amenorrhoea with hypertension: Undiagnosed 17‐α‐hydroxylase deficiency. Med. J. Aust., 2013, 199(8), 556-558.
[http://dx.doi.org/10.5694/mja12.11619] [PMID: 24138383]
[8]
Patocs, A.; Liko, I.; Varga, I.; Gergics, P.; Boros, A.; Futo, L.; Kun, I.; Bertalan, R.; Toth, S.; Pazmany, T.; Toth, M.; Szücs, N.; Horanyi, J.; Glaz, E.; Racz, K. Novel mutation of the CYP17 gene in two unrelated patients with combined 17α-hydroxylase/17,20-lyase deficiency: Demonstration of absent enzyme activity by expressing the mutant CYP17 gene and by three-dimensional modeling. J. Steroid Biochem. Mol. Biol., 2005, 97(3), 257-265.
[http://dx.doi.org/10.1016/j.jsbmb.2005.06.035] [PMID: 16176874]
[9]
Kim, S.M.; Rhee, J.H. A case of 17 alpha-hydroxylase deficiency. Clin. Exp. Reprod. Med., 2015, 42(2), 72-76.
[http://dx.doi.org/10.5653/cerm.2015.42.2.72] [PMID: 26161337]
[10]
Hinz, L.; Pacaud, D.; Kline, G. Congenital adrenal hyperplasia causing hypertension: An illustrative review. J. Hum. Hypertens., 2018, 32(2), 150-157.
[http://dx.doi.org/10.1038/s41371-017-0002-5] [PMID: 29255217]
[11]
Kater, C.; Biglieri, E.G.; Brust, N.; Chang, B.; Hirai, J. The unique patterns of plasma aldosterone and 18-hydroxycorticosterone concentrations in the 17 alpha-hydroxylase deficiency syndrome. J. Clin. Endocrinol. Metab., 1982, 55(2), 295-302.
[http://dx.doi.org/10.1210/jcem-55-2-295] [PMID: 7045152]
[12]
Yamakita, N.; Murase, H.; Yasuda, K.; Noritake, N.; Mercado-Asis, L.B.; Miura, K. Possible hyperaldosteronism and discrepancy in enzyme activity deficiency in adrenal and gonadal glands in Japanese patients with 17 α-hydroxylase deficiency. Endocrinol. Jpn., 1989, 36(4), 515-536.
[http://dx.doi.org/10.1507/endocrj1954.36.515] [PMID: 2555148]
[13]
Monno, S.; Takasu, N. A new variant of 17 alpha-hydroxylase deficiency with hyperaldosteronism in two Japanese sisters. Endocrinol. Jpn., 1989, 36(2), 315-323.
[http://dx.doi.org/10.1507/endocrj1954.36.315] [PMID: 2550210]
[14]
Hermans, C.; de Plaen, J.F.; de Nayer, P.; Maiter, D. Case report: 17 alpha-hydroxylase/17,20-lyase deficiency: A rare cause of endocrine hypertension. Am. J. Med. Sci., 1996, 312(3), 126-129.
[http://dx.doi.org/10.1016/S0002-9629(15)41777-X] [PMID: 8783679]
[15]
Biglieri, E.G.; Herron, M.A.; Brust, N. 17-hydroxylation deficiency in man. J. Clin. Invest., 1966, 45(12), 1946-1954.
[http://dx.doi.org/10.1172/JCI105499] [PMID: 4288776]
[16]
Human Gene Mutation Database,
[17]
Zhao, Z.; Lu, L.; Wang, O.; Wu, X.; Sun, B.; Zhang, W.; Wang, X.; Mao, J.; Chen, S.; Tong, A.; Nie, M. High incidence of hypertension-mediated organ damage in a series of Chinese patients with 17α-hydroxylase deficiency. Endocrine, 2022, 76(1), 151-161.
[http://dx.doi.org/10.1007/s12020-021-02966-w] [PMID: 35032013]
[18]
Wang, W.; Fu, J.F.; Gong, F.Q.; Zhu, W.H.; Shen, Z. Rare hypertension as a result of 17α-hydroxylase deficiency. J. Pediatr. Endocrinol. Metab., 2011, 24(5-6), 333-337.
[http://dx.doi.org/10.1515/jpem.2011.008] [PMID: 21823532]
[19]
Zhang, D.; Sun, J.R.; Xu, J.; Xing, Y.; Zheng, M.; Ye, S.D.; Zhu, J. 17α-hydroxylase/17,20 carbon chain lyase deficiency caused by p.Tyr329fs homozygous mutation: Three case reports. World J. Clin. Cases, 2021, 9(8), 1923-1930.
[http://dx.doi.org/10.12998/wjcc.v9.i8.1923] [PMID: 33748243]
[20]
Wei, J.Q.; Wei, J.L.; Li, W.C.; Bi, Y.S.; Wei, F.C. Genotyping of five chinese patients with 17alpha-hydroxylase deficiency diagnosed through high-performance liquid chromatography serum adrenal profile: identification of two novel CYP17 mutations. J. Clin. Endocrinol. Metab., 2006, 91(9), 3647-3653.
[http://dx.doi.org/10.1210/jc.2006-0153] [PMID: 16822828]
[21]
Xu, S.; Hu, S.; Yu, X.; Zhang, M.; Yang, Y. 17α-hydroxylase/17,20-lyase deficiency in congenital adrenal hyperplasia: A case report. Mol. Med. Rep., 2017, 15(1), 339-344.
[http://dx.doi.org/10.3892/mmr.2016.6029] [PMID: 27959413]
[22]
Nermoen, I.; Falhammar, H. Prevalence and characteristics of adrenal tumors and myelolipomas in congenital adrenal hyperplasia: A systematic review and meta-analysis. Endocr. Pract., 2020, 26(11), 1351-1365.
[http://dx.doi.org/10.4158/EP-2020-0058] [PMID: 33471666]
[23]
Oh, Y.K.; Ryoo, U.; Kim, D.; Cho, S.Y.; Jin, D.K.; Yoon, B.K.; Lee, D.Y.; Choi, D. 17α-hydroxlyase/17, 20-lyase deficiency in three siblings with primary amenorrhea and absence of secondary sexual development. J. Pediatr. Adolesc. Gynecol., 2012, 25(5), e103-e105.
[http://dx.doi.org/10.1016/j.jpag.2012.05.008] [PMID: 22841373]
[24]
Hassan-Smith, Z; Stewart, P.M. Inherited forms of mineralocorticoid hypertension. Curr. Opin. Endocrinol. Diabetes. Obes., 2011, 18(3), 177-185.
[http://dx.doi.org/10.1097/MED.0b013e3283469444]
[25]
Geller, D.S.; Zhang, J.; Wisgerhof, M.V.; Shackleton, C.; Kashgarian, M.; Lifton, R.P. A novel form of human mendelian hypertension featuring nonglucocorticoid-remediable aldosteronism. J. Clin. Endocrinol. Metab., 2008, 93(8), 3117-3123.
[http://dx.doi.org/10.1210/jc.2008-0594] [PMID: 18505761]
[26]
Cottrell, D.A.; Falko, J.M.; Bello, F.A. 17 alpha-hydroxylase deficiency masquerading as primary hyperaldosteronism. Am. J. Med. Sci., 1990, 300(6), 380-382.
[http://dx.doi.org/10.1097/00000441-199012000-00007] [PMID: 2264576]
[27]
Goldsmith, O.; Solomon, D.H.; Horton, R. Hypogonadism and mineralocorticoid excess. The 17-hydroxylase deficiency syndrome. N. Engl. J. Med., 1967, 277(13), 673-677.
[http://dx.doi.org/10.1056/NEJM196709282771302] [PMID: 6039879]
[28]
Speiser, P.W.; Arlt, W.; Auchus, R.J.; Baskin, L.S.; Conway, G.S.; Merke, D.P.; Meyer-Bahlburg, H.F.L.; Miller, W.L.; Murad, M.H.; Oberfield, S.E.; White, P.C. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: An endocrine society* clinical practice guideline. J. Clin. Endocrinol. Metab., 2018, 103(11), 4043-4088.
[http://dx.doi.org/10.1210/jc.2018-01865] [PMID: 30272171]
[29]
Nermoen, I.; Rørvik, J.; Holmedal, S.H.; Hykkerud, D.L.; Fougner, K.J.; Svartberg, J.; Husebye, E.S.; Løvås, K. High frequency of adrenal myelolipomas and testicular adrenal rest tumours in adult Norwegian patients with classical congenital adrenal hyperplasia because of 21-hydroxylase deficiency. Clin. Endocrinol., 2011, 75(6), 753-759.
[http://dx.doi.org/10.1111/j.1365-2265.2011.04151.x] [PMID: 21689130]

Rights & Permissions Print Cite
© 2024 Bentham Science Publishers | Privacy Policy