Endocrine Abstracts

Introduction: Swyer syndrome is caused by abnormal sex differentiation during the embryonic period, resulting in incomplete intrauterine masculinization and undifferentiated gonads associated with a 46, XY karyotype in phenotypic females. They have normal female external genitalia and underdeveloped female internal genitalia. Such patients usually present with primary amenorrhea and delayed puberty but can also have gonadal tumors as adults. The exact incidence is unknown. The syndrome has been estimated to occur in 1 in 80.000 births.

Case report: A 18 years old child, reared as female, born of non-consanguineous marriage, presented to our Out-patient Department with primary amenorrhea with no breast development, but normal pubic and axillary hair. She is the second in her siblings, one elder brother (21 years), two younger (male 16, female 14) all achieved puberty. Her mother had her menarche at age of 15.

On systematic enquiry, no symptoms suggestive of any system affection past medical, family, and developmental histories were normal.

Examination: General and systemic examinations were within normal limits; the subject had no stigmata of Turner’s syndrome. Weight: 48.5 kg, Height: 149 cm (–2 s.d.), span 156 cm, US/LS ratio 0.8, mid parental height (–1.–2 s.d.).

No breast budding, pubic hairtanner stage 4, External genitalia were normal; there was no evidence of ambiguity.

Investigation: Routine biochemical and hematological investigations were within normal limits. Hormonal evaluations were consistent with primary gonadal failure: FSH 98 mIU/ml (3.5–12.5). LH42.15 IU/l (2.4–12.6), E2 less than 5, T.Testosterone 0.16 ng/dl (0.15–0.8), F.testosterone 2 ng/dl (1–5).

Normal thyroid profile: Bone age by X-ray: 13 years/Abdominal/pelvic US: infantile uterus, absent ovarian tissue replaced by fibrous tissue bilaterally (Pure gonadal dysgenesis). /MRI pelvis: hypo plastic infantile uterus, with absent ovarian Tissue. Karyotype analysis revealed 46XY, without MosaicismA FISH study revealed 95% XY that the proband was positive for SRY region 45% on Y-chromosome. She was started on low-dose continuous estrogen priming, following which she had break through bleeding. She wasthen prescribed combination of estrogens and progestogen to induce cycling bleeding. Multiple psychological counselling sessions were held. Parents werecounselled about the risk of gonadal tumor and were advised gonadectomy but they refused.

Conclusion: This case report calls attention to exclude rare Disorder of Sex Development like Swyer syndrome in a subject with primary amenorrhea, accurate and early diagnosis would allow conservative treatment and appropriate psychological counselling, which reduces emotional trauma and improve patient survival.