An approach to the management and care of an individual with 46, XX ovotesticular disorder of sexual differentiation / Philippine Journal of Obstetrics and Gynecology

@#Ovotesticular disorder of sexual differentiation (OT-DSD) is a rare condition defined by the presence of both testicular and ovarian elements in the same individual. Definitive diagnosis is made based on histological assessment of the gonad/s confirming both ovarian and testicular components. In this paper, we describe how a diagnosis of 46XX, OT-DSD was made in a 20-year-old individual with enlarged breasts and ambiguous genitalia. The initial impression was congenital adrenal hyperplasia (CAH) based on 46, XX karyotype and absence of testes on physical examination and imaging. However, biochemical tests were inconsistent with CAH, hence a more probable diagnosis of 46, XX OT-DSD was considered. The patient suffered from gender dysphoria and after extensive counseling, he decided to undergo gender-affirming surgery: laparoscopic excision of the left gonad, subtotal hysterectomy, bilateral mastectomy, and a masculinizing genitoplasty. Histopathology of the left gonad revealed an ovotestes which confirmed the diagnosis of 46, XX OT-DSD.

Dilemmas and management of a pregnant 10-year-old sexual assault victim / Philippine Journal of Obstetrics and Gynecology

@#There has been a dramatic increase in very young adolescent pregnancies in recent years, with pregnancies documented in children as young as 10 years old, likely from sexual abuse. This article presents a 10-year-old female who initially consulted at the emergency room in her 27th week of pregnancy as a result of recurrent sexual abuse. Prompt assessment, diagnosis, and appropriate referrals to Obstetrics, Pediatric Adolescent Clinic, Psychiatry, and Child Protection Unit rendered optimal management for the patient. Dilemmas encountered in managing the case included preterm labor, large-for-gestational-age baby, immature pelvis, and approach to the appropriate mode of delivery compounded with management of trauma from sexual abuse. A multidisciplinary approach in managing these dilemmas achieved optimal outcomes with the patient delivering a live baby boy, appropriate for gestational age via cesarean section at term.

46, XY Partial Gonadal Dysgenesis diagnosed in adulthood

@#Partial Gonadal Dysgenesis (PGD) is a rare disorder of sexual development defined by sexual ambiguity and the presence of mullerian structures due to variable degrees of testicular dysgenesis in individuals with a non-mosaic 46, XY karyotype. Due to incomplete gonadal development, the external phenotype would rely on the degree of testicular function. The dysgenetic gonads found in PGD have high risk for malignant transformation. Although ambiguous genitalia was noted upon birth, a case diagnosed in adulthood is presented. Discordance between sex of rearing and the psychosexuality of the patient prompted consult. On work up, 46, XY was noted on karyotyping but presence of a uterus was seen on ultrasound. Hormonal assay revealed elevated levels of FSH and LH, while testosterone levels were low and estradiol was high. Gonadoblastoma was noted on final histopathologic evaluation. This report shall tackle thorough preoperative evaluation, surgical and postoperative management of individuals with PGD.