17-β-hydroxysteroid dehydrogenase type 3 deficiency: Identifying a rare cause of 46, XY female phenotype in adulthood

Objective: To review a case of differences of sexual differentiation (DSD) in an adult female patient and highlight the potential challenges and complexity in diagnosing and managing these conditions. Methods: We review a case of a 21-year-old 46, XY (+SRY) female presenting with primary amenorrhea...

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Main Authors: Catherine A. Sullivan, Jodi D. Hoffman, Joshua D. Safer
Format: Article
Language:English
Published: Elsevier 2018-03-01
Series:Journal of Clinical and Translational Endocrinology Case Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S2214624517300333
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author Catherine A. Sullivan
Jodi D. Hoffman
Joshua D. Safer
author_facet Catherine A. Sullivan
Jodi D. Hoffman
Joshua D. Safer
author_sort Catherine A. Sullivan
collection DOAJ
description Objective: To review a case of differences of sexual differentiation (DSD) in an adult female patient and highlight the potential challenges and complexity in diagnosing and managing these conditions. Methods: We review a case of a 21-year-old 46, XY (+SRY) female presenting with primary amenorrhea and the clinical course leading to her suspected and confirmed diagnosis. Results: A 21-year-old 46, XY (+SRY) female presented with primary amenorrhea at age 21. Based on her clinical presentation, she was initially diagnosed with partial androgen insensitivity syndrome, but ultimately found to have 17-β-HSD3 deficiency due to a homozygous mutation in the HSD17B3 gene. Molecular confirmation of her condition, which may not always be performed in DSD cases, provided her a more accurate and individualized treatment plan as well as personal risk assessment for her family members. Conclusion: 17-β-HSD3 deficiency is reported to be a rare cause of female 46, XY DSD but may be overlooked in adult patients due to clinical similarities with androgen insensitivity and lack of genetic testing in suspected cases. It is essential to have a multidisciplinary team to help confirm the diagnosis and provide comprehensive care to affected individuals. Keywords: Differences of sexual differentiation, Androstenedione, 17-β-hydroxysteroid dehydrogenase type 3
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spelling doaj.art-37e2b8f8bec346fdb68f1bc8be0231bc2022-12-21T19:16:32ZengElsevierJournal of Clinical and Translational Endocrinology Case Reports2214-62452018-03-0175717-β-hydroxysteroid dehydrogenase type 3 deficiency: Identifying a rare cause of 46, XY female phenotype in adulthoodCatherine A. Sullivan0Jodi D. Hoffman1Joshua D. Safer2Section of Endocrinology, Diabetes and Nutrition, Boston Medical Center and Boston University School of Medicine, Boston, MA, United States; Corresponding author. Boston Medical Center, Section of Endocrinology, Diabetes and Nutrition, 720 Harrison Ave, Suite 801, United States.Department of Pediatrics, Division of Genetics, Boston Medical Center and Boston University School of Medicine, Boston, MA, United StatesSection of Endocrinology, Diabetes and Nutrition, Boston Medical Center and Boston University School of Medicine, Boston, MA, United StatesObjective: To review a case of differences of sexual differentiation (DSD) in an adult female patient and highlight the potential challenges and complexity in diagnosing and managing these conditions. Methods: We review a case of a 21-year-old 46, XY (+SRY) female presenting with primary amenorrhea and the clinical course leading to her suspected and confirmed diagnosis. Results: A 21-year-old 46, XY (+SRY) female presented with primary amenorrhea at age 21. Based on her clinical presentation, she was initially diagnosed with partial androgen insensitivity syndrome, but ultimately found to have 17-β-HSD3 deficiency due to a homozygous mutation in the HSD17B3 gene. Molecular confirmation of her condition, which may not always be performed in DSD cases, provided her a more accurate and individualized treatment plan as well as personal risk assessment for her family members. Conclusion: 17-β-HSD3 deficiency is reported to be a rare cause of female 46, XY DSD but may be overlooked in adult patients due to clinical similarities with androgen insensitivity and lack of genetic testing in suspected cases. It is essential to have a multidisciplinary team to help confirm the diagnosis and provide comprehensive care to affected individuals. Keywords: Differences of sexual differentiation, Androstenedione, 17-β-hydroxysteroid dehydrogenase type 3http://www.sciencedirect.com/science/article/pii/S2214624517300333
spellingShingle Catherine A. Sullivan
Jodi D. Hoffman
Joshua D. Safer
17-β-hydroxysteroid dehydrogenase type 3 deficiency: Identifying a rare cause of 46, XY female phenotype in adulthood
Journal of Clinical and Translational Endocrinology Case Reports
title 17-β-hydroxysteroid dehydrogenase type 3 deficiency: Identifying a rare cause of 46, XY female phenotype in adulthood
title_full 17-β-hydroxysteroid dehydrogenase type 3 deficiency: Identifying a rare cause of 46, XY female phenotype in adulthood
title_fullStr 17-β-hydroxysteroid dehydrogenase type 3 deficiency: Identifying a rare cause of 46, XY female phenotype in adulthood
title_full_unstemmed 17-β-hydroxysteroid dehydrogenase type 3 deficiency: Identifying a rare cause of 46, XY female phenotype in adulthood
title_short 17-β-hydroxysteroid dehydrogenase type 3 deficiency: Identifying a rare cause of 46, XY female phenotype in adulthood
title_sort 17 β hydroxysteroid dehydrogenase type 3 deficiency identifying a rare cause of 46 xy female phenotype in adulthood
url http://www.sciencedirect.com/science/article/pii/S2214624517300333
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