Эндокринология и метаболический синдром
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ISSN: 2161-1017
ISSN: 2161-1017
Hector Granados and Priya Phulwani
Case: A 16-year-old female presented with primary amenorrhea, absent breast development, Tanner V pubic hair, sparse axillary hair and female appearing external genitalia without clitoromegaly. Further workup revealed: 46 XY karyotype with detectable SRY (sex-determining region of the Y chromosome), elevated follicle-stimulating hormone and luteinizing hormone, testosterone and androstenedione in the female range, normal dehydrotestosterone. Estrogen, estrone and ultra sensitive estradiol were in the prepubertal range. HCG stimulation did not result in an increase in testosterone levels, and the inhibin B level was undetectable; suggesting absent testicular function. AntiMullerian hormone level was <0.1. On trans-abdominal pelvic ultrasound, no ovaries, uterus or gonads were visualized. After the initiation of hormonal replacement therapy with an estrogen patch, MRI of the pelvis revealed a hypoplastic uterus and no definitive ovaries. Laparoscopic bilateral gonadectomy was performed. The pathology report showed some fallopian tissue on the left gonad with cystic changes. On the right gonad there was some ovarian stromal tissue without follicles. There was no evidence of gonadoblastoma.
Summary and Conclusion: Swyer syndrome with XY complete gonadal dysgenesis may present with absent genitalia and an “absent” uterus on pelvic ultrasound. However, a uterus is in fact present and may be visualized on MRI, particularly after treatment with estrogen. It is important to correctly diagnose these patients because of the reported increase of gonadoblastoma. In addition they have the option of pregnancy (in vitro fertilization of donor egg by donor sperm, followed by embryo transfer).