Objective: Partial or complete absence of enzymes which are necessary in the production of steroid hormones can cause a wide spectrum of symptoms during or after the infant from mild to severe degrees.We here present a 27-year old woman with labial fusion and virilization due to 3&bETA;-Hydroxysteroid dehydrogenase enzym defi ciency,a rare type of congenital adrenal hyperplasia
📌 3 Key Takeaways
🎯
Objective & Hypothesis:Objective: Partial or complete absence of enzymes which are necessary in the production of steroid hormones can cause a wide spectrum of symptoms during or after the infant from mild to severe degrees.We here present a 27-year old woman with labial fusion and virilization due to 3&bETA;-Hydroxysteroid dehydrogenase enzym defi ciency,a rare type of congenital adrenal hyperplasia
📊
Key Findings & Data:Objective: Partial or complete absence of enzymes which are necessary in the production of steroid hormones can cause a wide spectrum of symptoms during or after the infant from mild to severe degrees.We here present a 27-year old woman with labial fusion and virilization due to 3&bETA;-Hydroxysteroid dehydrogenase enzym defi ciency,a rare type of congenital adrenal hyperplasia
💡
Conclusion & Impact:Objective: Partial or complete absence of enzymes which are necessary in the production of steroid hormones can cause a wide spectrum of symptoms during or after the infant from mild to severe degrees.We here present a 27-year old woman with labial fusion and virilization due to 3&bETA;-Hydroxysteroid dehydrogenase enzym defi ciency,a rare type of congenital adrenal hyperplasia
Objective: Partial or complete absence of enzymes which are necessary in the production of steroid hormones can cause a wide spectrum of symptoms during or after the infant from mild to severe degrees.We here present a 27-year old woman with labial fusion and virilization due to 3&bETA;-Hydroxysteroid dehydrogenase enzym defi ciency,a rare type of congenital adrenal hyperplasia
Özet
Amaç: Steroid hormonların yapımında gerekli olan enzimlerin kısmi veya tam eksiklikleri infant döneminde veya sonrasında hafif dereceden ağır derecelere kadar geniş bir semptomlar spektrumuna neden olabilmektedir. Bu yazımızda oldukça nadir görülen,kadınlarda virilizasyon ve labial füzyon gibi semptomlara neden olabilen 3 beta hidroksi steroid dehidrogenaz enzim eksikliği tespit ettiğimiz bir olguyu sunmak istedik
E, İ., A, Ç., B, H., G, E., E, Y., S, B., Ü, Ö. (2010). A Rare Cause Of Virilization Of Females; Congenital Adrenal Hyperplasia Due To 3- Beta Hydroxysteroid Dehydrogenase Enzyme Deficiency. Maltepe Tıp Dergisi, Cilt: 2 - Sayı: 1, 31–34. https://ajindex.com/articles/231105
Payne AH, Hales DB. Overview of steroidogenic enzymes in the pathway from cholesterol to active steroid hormones. Endocr Rev 2004;25:947–970. Miller WL Early steps in androgen biosynthesis: from cholesterol to DHEA. Baillieres Clin Endocrinol Metab 1998;12:67–81.
Simard J, Ricketts M.L, Gingras S, Soucy P, Feltus F.A, Menler M.H. Molecular Biology of the 3ơHydroxysteroid Dehydrogenase ß5-ß4 Isomerase Gene Family En- docrine Reviews 2005; 26:525–582.
Trine H. Johannsen, Delphine Mallet, Harriet Dige-Petersen, et al Delayed Diagnosis of Congeni- tal Adrenal Hyperplasia with Salt Wasting Due to Type II 3ơHydroxysteroid Dehydrogenase DeŞ ciency The Journal of Clinical Endocrinology & Metabolism 2005;90:2076–2080.
Marui S, Russell AJ, Paula FJA, Dick-de-Paula I, Marcondes JA, Mendonca BB, Genotyping of the type II 3ơ-hydroxysteroid dehydrogenase gene (3ơ HSD) in women with hirsutism and elevated ACTH-stimulated delta5-steroids, Fertil Steril 2000;74:553-558. Bulent O. Yildiz Diagnosis of hyperandrogenism: clinical criteria Best Practice & Research Clinical En- docrinology & Metabolism 2006;20:167–176.
Chantal L, Weihua W, J. Ian M, et al Newly Proposed Hormonal Criteria via Genotypic Prof for Type II 3ơHydroxysteroid Dehydrogenase DeŞ ciency The Journal of Clinical Endocrinology & Metabolism 2002;87:2611–2622. Anna Nordenström Maguelone G. Forest Anna Wedell A Case of 3ơ -Hydroxysteroid Dehydrogenase Type II (HSD3B2) DeŞ ciency Picked up by Neonatal Screening for 21-Hydroxylase DeŞ ciency: DifŞ culties and Delay in Etiologic Diagnosis Horm Res 2007;68:204–208.
Wang L, Salavaggione E, Pelleymounter L,Eckloff B, Wieben E, Weinshilboum R Human 3ơ -hydroxysteroid dehydrogenase types 1 and 2:Gene sequence variation and functional genomics Journal of Steroid Biochemistry & Molecular Biology 2007;107:88–99.