Background 45,X/46,XY mixed gonadal dysgenesis (MGD) is a disorder of sex development characterized by a broad phenotypic spectrum. Patients may have unilateral, bilateral or no testis, streak gonads and/or persistent Mullerian structures. It poses a great clinical challenge due to known effects on growth, hormonal balance and gonadal development.
Objectives We present a case of 45,X/46,XY mixed gonadal dysgenesis (MGD) and the challenges of gender assignment discussion with the patient‘s family
Methods Clinical Case Report
A term new-born infant, delivered at home, presented to the neonatal unit with ambiguous genitalia. Examination revealed a 1.5 cm midline phallic structure, with labial-scrotal folds with rugosity but no urethral opening (figure 1), two external openings at introitus (urethral and vaginal) (figures 2 and 3), and bilateral palpable inguinal gonads, right larger than left.
Results Ultrasound of the pelvis showed a uterus, cervix and vagina with possible right intra-abdominal testis. The neonate passed a synacthen test and had normal 17-Alpha-Hydroxyprogesterone. Gonadotropins (Follicle stimulating hormone and Luteinizing hormone), testosterone and Anti-mullerian hormone were normal but there was no detectable oestradiol. Cytogenetic investigation included FISH and karyotype which showed 45,X/46,X,idic(Y)(q11).ish idic(Y)(p11.3)(SRYx2), of which 25% of cells were Y-containing, while 75% were X-containing. Exploratory laparoscopy with biopsy of bilateral gonads showed right gonadal tissue (figure. 4) and left hemi-uterus and fallopian tube with no ovary (figure. 5). Histology confirmed right testicular tissue and left sided structure resembling fallopian tube showed no ovarian stroma, primordial follicles, nor seminiferous tubules. Findings and options regarding sex of rearing, surgical and medical treatment, were discussed in the family conference. The structure of discussion is appended in table 1.
Conclusions The management of MGD is multi-disciplinary. Gender assignment is based on the consideration of several factors, including external and internal genital findings, the role of surgical procedures required, future prospects of hormone replacement, fertility, urinary & sexual function and risk of gonadal malignancy. In addition, social and psychological support is important as the family makes the decision on gender assignment.
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