Swyer syndrome: presentation and outcomes

Abstract

Objective To establish the spectrum of presentation, natural history and gynaecological outcomes in women with Swyer syndrome.Design Retrospective notes review.Setting Tertiary referral centre for disorders of sex development.Population A total of 29 adult women with Swyer syndrome.Methods Information was collected on age at diagnosis, biometric characteristics, timing of gonadectomy, histology of gonad, bone mineral density, uterine size and fertility.Main outcome measures Age at diagnosis, risk of gonadal malignancy, bone mineral density, uterine size.Results With regard to presentation, 26/29 (90%) women in this series presented with delayed puberty, and the median age at diagnosis was 17.2 years (range 0-55 years). The median age at gonadectomy was 18 years (range 9-33 years). Histology of the gonad was available in 22 women and demonstrated streak gonads with no evidence of malignancy in 12, dysgerminoma in 7 and gonadoblastoma in 3. The youngest patient diagnosed with dysgerminoma was 10 years old. The median height of the women was 1.73 m (range 1.54-1.95 m). Twelve out of the 20 (60%) women had evidence of osteopenia on dual energy X-ray absorptiometry scan. The uterine size and shape was assessed in eight women after completion of induction of puberty, and the uterine cross-section was found to be significantly lower than that in normal controls. Fertility was achieved with ovum donation in three women, all of whom had live births and one subsequently had a second successful pregnancy.Conclusion Early diagnosis of Swyer syndrome is necessary in view of the risk of dysgerminoma that can develop at an early age. Adequate hormone replacement is required to maintain bone mineral density and may improve the uterine size and shape.

Novel DMRT1 3'UTR+11insT mutation associated to XY partial gonadal dysgenesis

“…Complete gonadal dysgenesis in 46,XY individuals is characterized by a female phenotype with full development of unambiguous female genitalia, normally developed Mül-lerian structures, and streak gonads. In general, these patients come for clinical assistance because of delayed puberty (3). Conversely, 46,XY partial gonadal dysgenesis is characterized by partial testicular differentiation therefore ambiguous genitalia is usually observed in the Arq Bras Endocrinol Metab.…”

Incidental Gonadal Tumors at the Time of Gonadectomy in Women with Swyer Syndrome: A Case Series

“…1,2 Individuals with Swyer syndrome are phenotypical females, with female genitalia at birth and normal Müllerian structures. These women usually present during adolescence with delayed puberty and primary amenorrhoea, often accompanied by tall stature.…”

Androgen Insensitivity Syndrome (AIS)

“…29 This insensitivity is amplifi ed in complete androgen insensitivity syndrome, resulting in even higher concen trations of antimüllerian hormone, which distinguishes the syndrome from complete gonadal dysgenesis, a disorder of impaired Sertoli cell function. The diff erential diagnosis for complete androgen insensitivity syndrome in female adolescents includes other causes of primary amenorrhoea such as complete gonadal dysgenesis, 30 Mayer-Rokitansky-Kuster-Hauser syndrome, and other müllerian duct anomalieseg, transverse vaginal septae. Other diff erential diagnoses include various androgen biosynthesis disorders (appendix).…”