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Rationale: 17α-Hydroxylase/17, 20-lyase deficiency (17OHD) is a recessively inherited autosomal disease caused by CYP17A1 gene mutations. It is characterized by failure to synthesize cortisol, adrenal androgens and gonadal steroids. However, it is rare in clinic combining with type 2 diabetes mellitus (T2DM).

Patient Concerns: A 21-year-old woman was transferred to an endocrinology clinic because of paroxysmal paralysis. In addition, she presented with hypertension, primary amenorrhea and lack of pubertal development. Blood evaluation revealed hypokalemia, and a low cortisol level with an increased adrenocorticotropic hormone concentration. The renin activity and testosterone and estrogen levels were suppressed, and the gonadotropin levels were high. CT scan showed bilateral adrenal hyperplasia. Besides, this patient had hyperglycemia, hyperinsulinism and negative diabetes type 1 related antibodies. A homozygous mutation c. 985 to 987delinsAA in exon 6 was found in the patient which caused the missense mutation (p.Y329fs).

Diagnoses: 17α-hydroxylase/17, 20-lyase deficiency combined with T2DM was considered.

Interventions: The patient received dexamethasone, estradiol valerate, metformin, amlodipine besylate and D3 calcium carbonate tablets. The doses of dexamethasone was changed according to her blood potassium levels.

Outcomes: After treatment, the blood pressure, blood potassium and blood glucose returned to normal range. Besides, she had restored her menstrual cycle.

Lessons: For patients with hypertension, hypokalemia and lack of pubertal development, the possibility of 17OHD should be considered. The subsequent treatment would be challenging in patients with combined 17OHD and T2DM, considering the potential contribution of glucocorticoids to diabetic balance and osteoporosis.

Competing Interests: The authors have no conflicts of interest to disclose.

Titel:	Genetic diagnosis and clinical analysis of 17α-hydroxylase/17, 20-lyase deficiency combined with type 2 diabetes mellitus: A case report.
Autor/in / Beteiligte Person:	Zhang, Y ; Yuan, Y
Link:	Full Text Finder (Volltext)
Zeitschrift:	Medicine, Jg. 102 (2023-12-29), Heft 52, S. e36727
Veröffentlichung:	Hagerstown, Md : Lippincott Williams & Wilkins, 2023
Medientyp:	academicJournal
ISSN:	1536-5964 (electronic)
DOI:	10.1097/MD.0000000000036727
Schlagwort:	Female Humans Young Adult Dexamethasone Hydrocortisone Mixed Function Oxygenases Mutation Potassium Steroid 17-alpha-Hydroxylase genetics Adrenal Hyperplasia, Congenital complications Adrenal Hyperplasia, Congenital diagnosis Adrenal Hyperplasia, Congenital drug therapy Diabetes Mellitus, Type 2 complications Diabetes Mellitus, Type 2 genetics Hypertension Hypokalemia Lyases genetics
Sonstiges:	Nachgewiesen in: MEDLINE Sprachen: English Publication Type: Case Reports; Journal Article Language: English [Medicine (Baltimore)] 2023 Dec 29; Vol. 102 (52), pp. e36727. MeSH Terms: Adrenal Hyperplasia, Congenital* / complications ; Adrenal Hyperplasia, Congenital* / diagnosis ; Adrenal Hyperplasia, Congenital* / drug therapy ; Diabetes Mellitus, Type 2* / complications ; Diabetes Mellitus, Type 2* / genetics ; Hypertension* ; Hypokalemia* ; Lyases* / genetics ; Female ; Humans ; Young Adult ; Dexamethasone ; Hydrocortisone ; Mixed Function Oxygenases ; Mutation ; Potassium ; Steroid 17-alpha-Hydroxylase / genetics References: Endocr Rev. 2022 Jan 12;43(1):91-159. (PMID: 33961029) ; J Endocr Soc. 2019 Apr 18;3(6):1227-1245. (PMID: 31187081) ; PLoS Biol. 2014 Sep 23;12(9):e1001952. (PMID: 25248098) ; Front Genet. 2019 Oct 22;10:996. (PMID: 31695722) ; Clin Endocrinol (Oxf). 2023 Sep 7;:. (PMID: 37680029) ; J Med Case Rep. 2019 Jul 30;13(1):235. (PMID: 31358067) ; Hum Genet. 2003 Sep;113(4):367. (PMID: 12974278) ; Am J Hum Genet. 2016 Oct 6;99(4):877-885. (PMID: 27666373) ; Eur J Endocrinol. 2011 Apr;164(4):627-33. (PMID: 21282350) ; J Clin Res Pediatr Endocrinol. 2018 Mar 29;10(3):206-215. (PMID: 29595516) ; Mol Med Rep. 2017 Jan;15(1):339-344. (PMID: 27959413) ; Metabolism. 2014 Jan;63(1):42-9. (PMID: 24140098) ; Lancet. 2005 Apr 9-15;365(9467):1333-46. (PMID: 15823385) ; Mol Cell Endocrinol. 1988 Oct;59(3):249-53. (PMID: 3263289) ; Trends Endocrinol Metab. 2020 Mar;31(3):205-217. (PMID: 31843490) ; Hum Genet. 1992 Apr;89(1):95-6. (PMID: 1577471) ; J Clin Endocrinol Metab. 2015 Sep;100(9):3520-8. (PMID: 26126207) ; Clin Hypertens. 2019 Oct 15;25:23. (PMID: 31636948) ; Endocr Pract. 2017 May;23(5):576-582. (PMID: 28225307) ; J Hum Hypertens. 2018 Feb;32(2):150-157. (PMID: 29255217) ; Metabolism. 2003 Apr;52(4):488-92. (PMID: 12701064) ; Clin Exp Reprod Med. 2015 Jun;42(2):72-6. (PMID: 26161337) ; Clin Endocrinol (Oxf). 2013 Feb;78(2):197-203. (PMID: 22998134) ; J Clin Endocrinol Metab. 2012 Jan;97(1):59-67. (PMID: 22072737) ; Endocrinol Metab Clin North Am. 1994 Jun;23(2):341-57. (PMID: 8070426) ; N Engl J Med. 2014 Jun 12;370(24):2307-2315. (PMID: 24848981) ; Front Endocrinol (Lausanne). 2018 Jun 11;9:323. (PMID: 29942286) ; Diabetologia. 1998 Dec;41(12):1516-22. (PMID: 9867220) ; J Clin Endocrinol Metab. 1996 Oct;81(10):3797-801. (PMID: 8855840) ; Nucleic Acids Res. 2018 Jan 4;46(D1):D1062-D1067. (PMID: 29165669) Substance Nomenclature: 7S5I7G3JQL (Dexamethasone) ; WI4X0X7BPJ (Hydrocortisone) ; EC 4.- (Lyases) ; EC 1.- (Mixed Function Oxygenases) ; RWP5GA015D (Potassium) ; EC 1.14.14.19 (Steroid 17-alpha-Hydroxylase) Entry Date(s): Date Created: 20240111 Date Completed: 20240125 Latest Revision: 20240125 Update Code: 20240125 PubMed Central ID: PMC10754554

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Genetic diagnosis and clinical analysis of 17α-hydroxylase/17, 20-lyase deficiency combined with type 2 diabetes mellitus: A case report.