ESPE2023 Poster Category 1 Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology (56 abstracts)
The consistency between Assigned Gender and Individual Gender Identity in Disorder of Sex Development Cases: Long-Term Results from a Single Center
Arzu Jalilova 1 , Samim Özen 1 , Begüm Yuluğ Taş 2 , Deniz Kızılay Özalp 1 , Aslı Ece Solmaz 3 , Hanife Gül Balkı 1 , Ali Tekin 4 , Emrullah Arslan 1 , Tahir Atik 5 , Kübra Gülpınar 6 , Özgür Çoğulu 5 , Gökçen Ünal Kocabaş 6 , Burcu Özbaran 2 , Hüseyin Onay 7 , İbrahim Ulman 4 , Ferda Özkınay 5 , Füsun Saygılı 6 , Damla Gökşen 1 & Şükran Darcan 1
1Department of Pediatric Endocrinology and Diabetes, Faculty of Medicine, Ege University, Izmir, Turkey. 2Department of Child and Adolescent Psychiatry, Facultyl of Medicine, Ege University, Izmir, Turkey. 3Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir, Turkey. 4Deparment of Pediatric Urology, Faculty of Medicine, Ege University, Izmir, Turkey. 5Deparment of Pediatric Genetics, Faculty of Medicine, Ege University, Izmir, Turkey. 6Deparment of Endocrinology and Metabolism, Faculty of Medicine, Ege University, Izmir, Turkey. 7Multigen Genetic Diseases Diagnosis Center, Izmir, Turkey
Introduction: In cases of disorder of sex development (DSD), the change between the gender assigned at birth and the individual's chosen gender identity can occur especially after puberty.
Aim: was to determine the relationship between genetic sex, gender assigned at birth and gender identity, and the importance of molecular diagnosis.
Method:154patients older than 14years of age, who were followed up with the diagnosis of DSD from 1983 to 2023 were included.
Results: The mean age at admission was 7.7years ± 6.4. Sixty three (41%) patients had 46,XXDSD and 75 (48.7%) patients had 46,XYDSD. Sex chromosomeDSD was identified in 16 (10.3%) patients. Of the 46,XX cases, 2 (9.5%) of 6 cases reared as male chose female gender identity during follow-up. With 46,XY cases, female gender identity was maintained in 28 of 36 (48%) cases who were raised as female, female-to-male gender transition occurred in7 (19.5%) cases and 1 case was uncertain. One of the 7 (43.7%) patients with sex chromosome DSD and assigned male gender identity preferred female gender identity (table1).
| n | Gender Assigned at Birth | Individual Gender Identity | |
| 46,XXDSD | |||
| Anatomical defect | 12 | 12F | 12F |
| Congenital adrenal hyperplasia | 44 | 38F 6M |
40F 4M |
| Gonadal dysgenesis | 6 | 6F | 6F |
| Syndromic | 1 | 1F | 1F |
| Total:46,XXDSD | 63 | 57(%90.5)F 6(%9.5)M |
59(%93.6)F 4(%6.4)M |
| 46,XYDSD | |||
| Defects in Androgen Action | |||
| Androgen insensitivity syndrome | 6 | 5F 1M |
5F 1M |
| Undetermined causes | 11 | 3F 8M |
2F 8M 1 NSO |
| Defects in Testosterone Metabolism | |||
| 5-alpha-reductase 2deficiency | 14 | 5F 9M |
1F 13M |
| Defects in Androgen Production | |||
| 17-beta-hydroxysteroid dehydrogenase type3 deficiency | 8 | 8F | 5F 3M |
| 3-beta-hydroxysteroid dehydrogenase deficiency | 1 | 1M | 1M |
| Impaired Leydig cell differentiation | 2 | 2F | 2F |
| Undetermined causes | 6 | 2F 4M |
2F 4M |
| Abnormalities of Gonadal Development | |||
| SF1 | 2 | 2F | 2F |
| WT1 | 2 | 1F 1M |
1F 1M |
| Testicular regression syndrome | 5 | 5M | 5M |
| Undetermined causes | 9 | 8F 1M |
8F 1M |
| Other | |||
| Vanishing testis | 3 | 3M | 3M |
| PMDS | 3 | 3M | 3M |
| Syndromic | 3 | 3M | 3M |
| Total:46,XYDSD (n=75) | 36(%48) F 39 (%52) M |
28 (%37.3) F 46 (%61.3) M 1 (%1.4) NSO |
|
| Sex chromosomeDSD | 16 | 9F 7M |
10F 6M |
| F:female, M:male; NSO: no sexual orientation | |||
Conclusion: Gender determination is always a complex, challenging experience for clinicians. Gender reassignment management should be individualized in collaboration with a multidisciplinary team to preserve gonadal function, avoid irreversible surgeries, and align gender identity with the assigned gender. Table 1: The variation between genetic sex, assigned gender, and individual gender identity.
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