ESPE2022 Poster Category 1 Late Breaking (25 abstracts)
Challenges of Gender Assignment in Disorder of Sex Development (DSD) in Developing Countries
Sommayya Aftab 1 , Jaida Manzoor 1 , Tahir Shaheen 1 , Noore Hira 1 , Nabila Talat 2 , Muahmmad Bilal 2 , Sajid Iqbal Nasir 2 , Warda Tahir 2 , Muhammad Usama Aziz 2 , Attia Bari 3 , Ehsan Ullah 4 , Saima Mansoor Bugvi 5 , Shabnam Bashir 6 & Maida Akber 6
1Department of Paediatric Endocrinology and Diabetes, University of Child Health Sciences, The Children's Hospital, Lahore, Pakistan; 2Department of Paediatric Surgery, University of Child Health Sciences, The Children's Hospital, Lahore, Pakistan; 3Department of Paediatric Medicine, University of Child Health Sciences, The Children's Hospital, Lahore, Pakistan; 4Department of Developmental Paediatrics, University of Child Health Sciences, The Children's Hospital, Lahore, Pakistan; 5Department of Genetics, University of Child Health Sciences, The Children's Hospital, Lahore, Pakistan; 6Department of Paediatric Psychiatry, University of Child Health Sciences, The Children’s Hospital, Lahore, Pakistan
Background: Gender assignment in children with disorder of sex development (DSD) is a key step in their management and needs detailed assessment. In developing countries, children with DSD are often presented late, due to lack of awareness and social stigmatization, which makes management more challenging.
Methodology: Retrospective review of complex DSD cases (karyotyping different from current sex of rearing), presented in DSD clinic of a tertiary care hospital over last 2 years.
Results: Sixteen cases with complex DSD were reported with mean age of presentation 11.6 (3.4 – 16) year. 46, XY DSD was the most common disorder (n=9), followed by 46, XY DSD (n=6) and sex chromosome (n=1). All 46, XX DSD were the late presentation of congenital adrenal hyperplasia (CAH) with mean age of presentation 11.6 (9 – 16) year and current sex of rearing as male. 5/6 cases were salt-wasting CAH and born with atypical genitalia, but living as male due to social and family pressure. However, there was one case of non-salt-wasting CAH, presented at 9 years of age with bilateral undescended testis along with precocious puberty (Prader scoring 5). After considering the child and family decision, gender identity assessment, androgenization of brain and advanced Prader scoring it was decided to keep them as male and they underwent hysterectomy, oophorectomy with male genitoplasty. Among 46, XY DSD, partial androgen insensitivity was the most common (n=3), followed by 5-alpha reductase deficiency (n=2), severe gonadal dysgenesis (n=2), complete androgen insensitivity (n=2). Mean age of presentation was 12.5 (9-15.8) year, and all were having female sex of rearing at presentation. Virilization at puberty (n=5) was the most common presentation, followed by inguinal swelling (n=2), and primary amenorrhea (n=2). Both cases of 5-alpha reductase were re-assigned a male gender and underwent orchidopexy with male genitoplasty. Cases with complete androgen insensitivity and severe gonadal dysgenesis were reared up as female and had bilateral gonadectomy followed by female hormone replacement therapy. 2 cases of partial androgen insensitivity were reared up as male and 1 as females. One case of Sex chromosomal DSD (45, XO, 47, XXY) with mixed gonadal dysgenesis, presented with atypical genitalia at birth with Prader scoring of 3/5. She was reared up as female with plan of bilateral gonadectomy.
Conclusion: There is a need to establish a system for early identification and referral of DSD in developing countries. It will help in improving their clinical outcome and quality of life.
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