Variability in Sex Assignment at Birth and Etiological Diagnosis of Differences of Sex Development: A Ten-Year Institutional Experience from Assam
Introduction: Differences of sex development (DSD) also known as disorders of sex development encompass a wide spectrum of conditions with varying clinical presentations across different age groups. This study aims to analyse various aetiologies of DSD in Assam and the variability of sex assignmen...
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| Language: | English |
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Wolters Kluwer Medknow Publications
2024-08-01
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| Series: | Indian Journal of Endocrinology and Metabolism |
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| Online Access: | https://journals.lww.com/indjem/fulltext/2024/07000/variability_in_sex_assignment_at_birth_and.13.aspx |
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| author | Praveen Nagarajaiah Ashok K Bhuyan Abhamoni Baro Uma K Saikia |
| author_facet | Praveen Nagarajaiah Ashok K Bhuyan Abhamoni Baro Uma K Saikia |
| author_sort | Praveen Nagarajaiah |
| collection | DOAJ |
| description | Introduction:
Differences of sex development (DSD) also known as disorders of sex development encompass a wide spectrum of conditions with varying clinical presentations across different age groups. This study aims to analyse various aetiologies of DSD in Assam and the variability of sex assignment at birth.
Methods:
This retrospective study included the records of people with DSD presenting to a tertiary centre over 10 years. The age at presentation, sex assignment, gender identity, degree of ambiguity, pertinent hormonal and radiological investigations were noted. Descriptive statistics were used for analysis.
Results:
The age of presentation varied widely, with peaks during infancy and puberty. The most prevalent DSD type was 46, XY DSD (61.2%), followed by 46, XX DSD (19.7%) and sex chromosome DSD (19.1%). Among people with 46, XY DSD, androgen biosynthesis disorders were dominant, particularly 5-a reductase 2 deficiency (46.7%). Among 46, XX DSDs, the most common subtype was androgen excess disorders (51.7%) comprising 21a-hydroxylase deficiency (48,3%) and 11β-hydroxylase deficiency (3.4%). Turner syndrome was most prevalent among sex chromosome DSD (71.4%) with others being Klinefelter syndrome, 45, XO/46, XY mixed gonadal dysgenesis and 46, XX/46, XY chimerism. The degree of ambiguity was variable depending on the type of DSD and similarly, sex assignment at birth was influenced by the level of ambiguity.
Conclusion:
The study underscores the significance of comprehensive approaches for DSD diagnosis and management, especially in regions with limited resources. The insights gained from this clinical study offer valuable understanding and aid in addressing the complexities associated with these conditions. |
| format | Article |
| id | doaj-art-c30ca0f8fbd6443088f1ede2ef436fcf |
| institution | OA Journals |
| issn | 2230-9500 |
| language | English |
| publishDate | 2024-08-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Journal of Endocrinology and Metabolism |
| spelling | doaj-art-c30ca0f8fbd6443088f1ede2ef436fcf2025-08-20T02:32:31ZengWolters Kluwer Medknow PublicationsIndian Journal of Endocrinology and Metabolism2230-95002024-08-0128441742310.4103/ijem.ijem_385_23Variability in Sex Assignment at Birth and Etiological Diagnosis of Differences of Sex Development: A Ten-Year Institutional Experience from AssamPraveen NagarajaiahAshok K BhuyanAbhamoni BaroUma K SaikiaIntroduction: Differences of sex development (DSD) also known as disorders of sex development encompass a wide spectrum of conditions with varying clinical presentations across different age groups. This study aims to analyse various aetiologies of DSD in Assam and the variability of sex assignment at birth. Methods: This retrospective study included the records of people with DSD presenting to a tertiary centre over 10 years. The age at presentation, sex assignment, gender identity, degree of ambiguity, pertinent hormonal and radiological investigations were noted. Descriptive statistics were used for analysis. Results: The age of presentation varied widely, with peaks during infancy and puberty. The most prevalent DSD type was 46, XY DSD (61.2%), followed by 46, XX DSD (19.7%) and sex chromosome DSD (19.1%). Among people with 46, XY DSD, androgen biosynthesis disorders were dominant, particularly 5-a reductase 2 deficiency (46.7%). Among 46, XX DSDs, the most common subtype was androgen excess disorders (51.7%) comprising 21a-hydroxylase deficiency (48,3%) and 11β-hydroxylase deficiency (3.4%). Turner syndrome was most prevalent among sex chromosome DSD (71.4%) with others being Klinefelter syndrome, 45, XO/46, XY mixed gonadal dysgenesis and 46, XX/46, XY chimerism. The degree of ambiguity was variable depending on the type of DSD and similarly, sex assignment at birth was influenced by the level of ambiguity. Conclusion: The study underscores the significance of comprehensive approaches for DSD diagnosis and management, especially in regions with limited resources. The insights gained from this clinical study offer valuable understanding and aid in addressing the complexities associated with these conditions.https://journals.lww.com/indjem/fulltext/2024/07000/variability_in_sex_assignment_at_birth_and.13.aspxambiguous genitalia; clinical presentation; dsd; sex assignment; sex of rearing |
| spellingShingle | Praveen Nagarajaiah Ashok K Bhuyan Abhamoni Baro Uma K Saikia Variability in Sex Assignment at Birth and Etiological Diagnosis of Differences of Sex Development: A Ten-Year Institutional Experience from Assam Indian Journal of Endocrinology and Metabolism ambiguous genitalia; clinical presentation; dsd; sex assignment; sex of rearing |
| title | Variability in Sex Assignment at Birth and Etiological Diagnosis of Differences of Sex Development: A Ten-Year Institutional Experience from Assam |
| title_full | Variability in Sex Assignment at Birth and Etiological Diagnosis of Differences of Sex Development: A Ten-Year Institutional Experience from Assam |
| title_fullStr | Variability in Sex Assignment at Birth and Etiological Diagnosis of Differences of Sex Development: A Ten-Year Institutional Experience from Assam |
| title_full_unstemmed | Variability in Sex Assignment at Birth and Etiological Diagnosis of Differences of Sex Development: A Ten-Year Institutional Experience from Assam |
| title_short | Variability in Sex Assignment at Birth and Etiological Diagnosis of Differences of Sex Development: A Ten-Year Institutional Experience from Assam |
| title_sort | variability in sex assignment at birth and etiological diagnosis of differences of sex development a ten year institutional experience from assam |
| topic | ambiguous genitalia; clinical presentation; dsd; sex assignment; sex of rearing |
| url | https://journals.lww.com/indjem/fulltext/2024/07000/variability_in_sex_assignment_at_birth_and.13.aspx |
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