Endocrinology & Metabolic Syndrome
Open Access

Priya Phulwani

Publications

• Case Report
  Absent Visualization of a Hypoplastic Uterus in a 16 Year Old with Complete 46 XY Gonadal Dysgenesis (Swyer Syndrome)
  Author(s): Hector Granados and Priya PhulwaniHector 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, MR.. View More»
  DOI: 10.4172/2161-1017.1000114

  Abstract PDF

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