Congenital adrenal hyperplasia (CAH) is a an autosomal recessive disorder resulting from a defect in any of several enzymes involved in biosenthesis of cortisol and sex steroids in adrenal cortex. 21-hydroxylase deficiency (90-95%) is the most common form and 17 α-hydroxylase / 17,20 lyase deficiency is the least common (
📌 3 Key Takeaways
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Objective & Hypothesis:Congenital adrenal hyperplasia (CAH) is a an autosomal recessive disorder resulting from a defect in any of several enzymes involved in biosenthesis of cortisol and sex steroids in adrenal cortex. 21-hydroxylase deficiency (90-95%) is the most common form and 17 α-hydroxylase / 17,20 lyase deficiency is the least common (
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Key Findings & Data:Congenital adrenal hyperplasia (CAH) is a an autosomal recessive disorder resulting from a defect in any of several enzymes involved in biosenthesis of cortisol and sex steroids in adrenal cortex. 21-hydroxylase deficiency (90-95%) is the most common form and 17 α-hydroxylase / 17,20 lyase deficiency is the least common (
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Conclusion & Impact:Congenital adrenal hyperplasia (CAH) is a an autosomal recessive disorder resulting from a defect in any of several enzymes involved in biosenthesis of cortisol and sex steroids in adrenal cortex. 21-hydroxylase deficiency (90-95%) is the most common form and 17 α-hydroxylase / 17,20 lyase deficiency is the least common (
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters
Abstract
Congenital adrenal hyperplasia (CAH) is a an autosomal recessive disorder resulting from a defect in any of several enzymes involved in biosenthesis of cortisol and sex steroids in adrenal cortex. 21-hydroxylase deficiency (90-95%) is the most common form and 17 α-hydroxylase / 17,20 lyase deficiency is the least common (
Özet
Konjenital adrenal hiperplazi (KAH), adrenal kortekste kortizol ve seks steroidlerin biyosentezinde yer alan enzimlerden herhangi birinin kalıtsal kusurundan kaynaklanan otozomal resesif bozukluktur. En sık 21-hidroksilaz eksikliği görülmesine rağmen 17 ?-hidroksilaz/17,20 liyaz eksikliği en az görülen tipidir (
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Cite This Article
ALKAN, M., KURTİPEK, Ö., ÖZTERLEMEZ, N. T., ÖZDEMİR, Ç., ARSLAN, M. (2022). Anesthesia Management in a Patient with 17 Αlpha Hydroxylase/17,20 Lyase Deficiency. Gazi Medical Journal, Cilt: 29 - Sayı: 2, 152–153. https://ajindex.com/articles/650783
Auchus RJ. The genetics, pathophysiology, and management of human deficiencies of P450c17. Endocrinol Metab Clin North Am 2001;30:101-19
Miller WL. Androgen synthesis in adrenarche. Rev Endocr Metab Disord 2009;10:3-17
Friedrich O, Reid MB, Van den Berghe G, Vanhorebeek I, Hermans G, Rich MM, et al. The Sick and the Weak: Neuropathies/Myopathies in the Critically Ill. Physiol Rev. 2015;95:1025-109
Kanda F, Okuda S, Matsushita T, Takatani K, Kimura KI, Chihara K. Steroid myopathy: pathogenesis and effects of growth hormone and insulin-like growth factor-I administration. Horm Res 2001;56 Suppl1:24-8
Biglieri EG, Herron MA, Brust N. 17-hydroxylation deficiency in man. J Clin Invest 1966; 45: 1946–1954
Kim SM, Rhee JH. A case of 17 alpha-hydroxylase deficiency, Clin Exp Reprod Med 2015 Jun;42:72-6
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;15:339-344
Shaikh S, Verma H, Yadav N, Jauhari M, Bullangowda J. Applications of Steroid in Clinical Practice: A Review. International Scholarly Research Network ISRN Anesthesiology Volume 2012, Article ID 985495, 11 pages doi:10.5402/2012/985495.