Iftikhar Ahmad Jan, Hazratullah Orakzai, Shahbaz Hanif, Farhat Masood Mirza.
Management of children with disorders of sexual development (DSD): a retrospective analysis.
Pak J Med Sci Jan ;27(4):729-33.
Objective: We retrospectively reviewed data of children who were managed for Disorders of Sexual Development (DSD) presenting after one year of age with a view to understand gender assignment issues in these children. Methodology: Patients were managed at NICH Karachi, NIRM and Shifa International Hospital Islamabad. All patients were investigated on standard lines to make a proper diagnosis. Karyotyping was performed in all patients. Hormonal essays included, serum testosterone levels, 17-OH progesterone levels, FSH, LH etc. Ultrasonography, urogenital endoscopy and laparoscopy were also performed in selected cases. The aim was to assign the genetic sex to the patient when possible. Male gender was advised to all male DSD responding to exogenous hormonal therapy. Patients with complete androgen insensitivity syndrome were advised female gender. Children having Gonadal dysgenesis (GD) responding to androgen therapy were also advised male gender. Female gender was advised to all children with congenital adrenal hyperplasia (CAH). Gender assignment was performed after a detail consultation with the family and children if they were old enough to comprehend the issue. Male gender was assigned to CAH patients reared as male if child/family insisted to keep the gender of rearing. Results: Of the 61 patients, 23 were undervirilized male (UVM), 29 had congenital adrenal hyperplasia (CAH), 4 had clitoromegaly, four gonadal dysgenesis and one aphalia. The mean age of presentation of UVM was 8.4 years and CAH was 7.06 years. Clitoromegaly without CAH mean age was 5.6 years. It was not possible to definitely establish the true nature of male DSD in few patients due to limitation of available investigations. Twenty two male DSD patients responded to exogenous testosterone therapy and had male gender assignment. One had female conversion as non-responder. Of the 29 cases of CAH, 27 decided for female assignment and had feminizing genitoplasty. Two children aged 13 and 16 years refused for a female gender assignment and were assigned male gender and reconstructions performed accordingly.Clitoral recession was performed in all the four patients with clitoromegaly. Four patient having MGD was assigned male gender. Single aphallia patient was assigned male gender however adequate phallus reconstruction is still awaited. Older UVM children reared as female accepted male gender happily but CAH children more than 10 years of age reared as male were not happy for a female conversion. Genital reconstruction was most satisfactory in CAH patients. Patients with male gender assignment had multiple procedures and patient’s satisfaction response was variable according to the size of the phallus and severity of androgen deficiency. Most patients were however happy for the masculine appearance after chordee correction. Long-term results need to be evaluated. Conclusion: Older female children reared as male find it extremely difficult for female conversion whereas male children reared as female accept male conversion well. Gender re-assigment in younger children is well accepted by the family.
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