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Aim To study unusual presentations of 46XY pure gonadal dysgenesis (Swyer syndrome), implications of delayed diagnosis, importance of karyotype and early gonadectomy and pregnancy outcome with ART. Background To report a case of Swyer syndrome with spontaneous breast development, menses and bilateral hydrosalpinx with Successful pregnancy outcome. Case description 30 years old lady presented with primary infertility, secondary amenorrhea and normal secondary sexual characters. Sonography revealed small uterus with atrophic ovaries and B/L hydrosalpinx. Hormonal profile showed hypergonadotrophic hypogonadism and Karyotype was 46XY. Laparoscopic salpingectomy and gonadectomy was done. Histopathology revealed streak gonads with no evidence of malignancy and diagnosis of 46XY disorder of sexual development (DSD)/ Swyer syndrome was made. After endometrial preparation with ethinyl estradiol, patient conceived with allogenic oocytes and delivered preterm twins vaginally at 31 weeks. Conclusion Patients with Swyer Syndrome usually present at adolescence with delayed puberty and/or primary amenorrhea. However they can present late with secondary amenorrhea or just irregular, infrequent menses or primary infertility. Karyotype is mandatory in such cases and early gonadectomy improves long term survival as incidence of malignancy in the dysgenetic gonad is high. Incipient malignancy is usually the source of estrogen in patients with normal secondary sexual characters. Hypoplastic uterus is responsive to estrogen therapy in terms of enlargement and endometrial preparation and also this uterus may have the ability to respond to the process of labor and these patients can deliver vaginally. Clinical significance Early diagnosis and timely management of patients with dysgenetic gonads is important. Pregnancy is possible with allogenic oocytes. Genetic counseling and long term follow-up is required. How to cite this article Singh P, Kalra A, Nadkarni PK, Nadkarni K. Successful Conception and Delivery in an Unusual Case of 46,XY Pure Gonadal Dysgenesis with Spontaneous Breast Development, Menses, and Bilateral Hydrosalpinx. Int J Infertil Fetal Med 2016;7(2):58-60.

Triple X syndrome is a sex chromosome abnormality characterised by extra X chromosome, occurring in 1 in 1000 female births. This condition often remains undiagnosed as most of them have normal phenotype, puberty and fertility. We report a case of Triple X syndrome with normal phenotype and intelligence presented with premature ovarian failure, recurrent abortion and secondary infertility. This case emphasizes the need for chromosomal analysis in women presenting with premature ovarian failure leading to recurrent abortion and secondary infertility.

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