Abstract 67: A unique case of female klinefelter syndrome with nephrotic syndrome and hypothyroidism

Background: Klinefelter syndrome is the most common chromosomal disorder with karyotype XXY characterized by tall stature, male external genitalia with a small penis and testes, and infertility due to azoospermia. The association of Klinefelter with autoimmune conditions like Lupus is well known but the association with nephrotic syndrome and hypothyroidism has not been explored. Case Report: A 29-year-old female known case of hypertension and hypothyroidism presented with complaints of weight gain and primary amenorrhea for 2 yrs. On examination, patient had a BMI of 43.4 kg/m2 and was vitally stable. General physical examination revealed pallor, pedal oedema and facial puffiness. On pelvic examination, patient had an SMR of A -ve, P1, B5. On investigation, the patient had hypergonadotrophic hypogonadism; serum LH 31.1 mIU/mL; FSH 57; testosterone 1.25 ng/ml, ft3 101, ft4 7.49, TSH 8.7. Urea 59 mg/dl, creatinine 2.24 mg/dl, albumin 2.9 g/dl, 24 hr urinary protein 20 g/day. USG showed ascites with hepatomegaly. MRI revealed absence of uterus, ovaries and prostate. Right testis at right inguinal ring measuring 19 x 13 mm, left testis not visualized and scrotal sac not well developed. Renal biopsy showed nodular glomerulopathy; immunofluorescence markers were negative. Karyotyping revealed XXY chromosome. Based on these findings, she was diagnosed to have female phenotype Klinefelter syndrome with morbid obesity, nephrotic syndrome and hypothyroidism. Conclusion: Klinefelter syndrome variant 47XXY can present in several forms, female phenotype being a rare entity. Further FISH analysis is required to look for presence of SRY gene on chromosome Y to explain the development of testes and absence of mullerian structures. The possibility of normal Y function with androgen insensitivity; CAIS, needs to be kept in mind which requires further AR gene analysis.