Pubertal outcomes and sex of rearing of patients with ovotesticular disorder of sex development and mixed gonadal dysgenesis

Abstract

PurposePatients with ovotesticular disorder of sex development (DSD) and mixed gonadal dysgenesis (MGD) usually present with asymmetric gonads and have wide phenotypic variations in internal and external genitalia. The differential diagnosis of these conditions is based on karyotype and pathological findings of the gonads. This study investigated the clinical features at presentation, karyotype, sex of rearing, and pubertal outcomes of patients with ovotesticular DSD and MGD.MethodsThe study comprised 23 patients with DSD who presented with asymmetric gonads. The presenting features, karyotype, sex of rearing, and pubertal outcomes were reviewed retrospectively.ResultsAll 23 patients presented with ambiguous genitalia at a median age of 1 month (range, 1 day–1.6 years). Müllerian duct remnants were identified in 15 of 23 patients (65.2%). Fourteen patients were diagnosed with ovotesticular DSD, whereas the other 9 were diagnosed with MGD. Eight of 14 patients (57.1%) with ovotesticular DSD were raised as males, while 7 of 9 patients with MGD (77.8%) were assigned as males. One male-assigned patient with ovotesticular DSD changed to female sex at age 20 years.ConclusionsPatients with ovotesticular DSD and MGD manifest overlapping clinical presentations and hormonal profiles. It is difficult to determine the sex of rearing and predict long-term pubertal outcomes. Therefore, long-term follow-up is required to monitor spontaneous puberty, sex outcome, and urological and gynecological complications.

Disorders of Sex Development: Classification, Review, and Impact on Fertility

“…However, Weidler et al [75] noted that gonadectomy deprives patients of the benefits of their endogenous hormones and potential fertility, and criticized that patients with MGD have historically undergone gonadectomy before addressing gender identity. Similarly, Kim et al [76] noted that it is difficult to determine parenting sex and to predict long-term pubertal outcomes in patients with MGD (and ovotesticular DSD), and therefore, long-term follow-up is required to control spontaneous puberty, final sex, and urological and gynecological complications.…”

Male infertility and genitourinary birth defects: there is more than meets the eye

“…Mixed gonadal dysgenesis is a rare disorder of sexual development that may present with ambiguous genitalia. These individuals usually have a 45, XO/46, XY mosaic karyotype, and may present with hypospadias, abnormal scrotum, cryptorchidism, and micropenis (89). Interestingly, up to a third may have a normal karyotype, and those who do have a unilateral testicular gonad present are generally devoid of germ cells (3).…”

Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline

“…A similar situation may occur for females with mixed gonadal dysgenesis or partial gonadal dysgenesis. In females with ovo-testicular DSD and well-developed ovarian tissue, it often remains functional and menstruations have been reported to occur in 50% of cases (26). In individuals with spontaneous puberty and risk of premature ovarian failure, it is important to follow-up pubertal progression and measure gonadotropins in order to estimate ovarian reserve and assess the need for oestrogen replacement.…”