Abstract 177: A young female with recurrent large ovarian cysts

Background: POR-deficiency is a new variant of congenital adrenal hyperplasia can manifest with clinical features similar to those in 21α-OH deficiency and aromatase deficiency It is an autosomal recessive condition caused by mutation in the POR (Cyp 450 oxidoreductase) gene which encodes an electron donor for all microsomal Cyp 450 enzymes and several non-Cyp 450 microsomal enzymes. It has an extremely variable phenotype ranging from adrenal insufficiency, skeletal malformations similar to Antley–Bixler syndrome to genital ambiguity present in both sexes. Case Details: A 15-year-old girl was brought by her parents to our department of Endocrinology with the complaints of failure to attain menarche and poor pubertal progression .3 yrs back, she developed recurrent abdominal pain, admitted with acute abdomen with torsion of right ovarian cyst requiring oophorectomy. A year later symptoms recurred on left side. She was found to have large hemorrhagic ovarian cyst, underwent cystectomy. Few months later, the ovarian cysts recurred. She also had poor progression of pubertal changes and referred to our department. She was tall, had arachnodactyly with short fourth metatarsals, SMR- A1P2B2, normal external genitalia. USG abdomen showed hypoplastic uterus with large ovarian cysts Biochemical investigations – Elevated LH, FSH, low estrogen, low cortisol, elevated 17-OH progesterone, inadequate response post stimulation suggestive of POR deficiency, which was confirmed by genetic testing. Conclusion: Clinical spectrum of PORD is variable. Delayed or disordered puberty may be the first presentation in PORD patients. As in our patient, POR mutations may underlie in patients with clinical diagnosis of aromatase deficiency, in whom aromatase gene mutations have not been identified. PORD should be considered as one of the differential diagnoses in cases of primary amenorrhea with or without genital ambiguity and multicyclic ovaries.