Endocrine Abstracts

Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is a rare autosomal dominant condition caused by a variant in the FOXL2 gene. Type I BPES is associated with premature ovarian insufficiency, often prompting early fertility preservation. While androgen elevations during ovarian stimulation are well described, longer-term effects are less well documented.We present the case of a 19-year-old female with BPES referred for the investigation of elevated serum testosterone (5.6 nmol/l, [0.1-1.3]) following ovarian stimulation and oocyte retrieval for prophylactic fertility preservation. She reported a four-year history of oligomenorrhoea. Examination revealed mild facial hirsutism and acne without acanthosis, alopecia, striae, or proximal myopathy. Eight months post-stimulation, testosterone remained elevated (4.1 nmol/l [0.1-1.3]) with normal DHEAS (8.3 umol/l [1.8-10]), androstenedione (4.3 nmol/l [1.7-4.6]), SHBG (34.4 nmol/l [24.6-122]); and 17-hydroxyprogesterone (3.75 nmol/l [0.6-4.5]). Pelvic ultrasound was normal. A triptorelin suppression test 18 months post-stimulation showed normal baseline and post-suppression testosterone (1.0 and 0.7 nmol/l, respectively). An MRI pelvis is awaited. This case illustrates prolonged hyperandrogenaemia following ovarian stimulation in a patient with BPES. Although transient androgen elevation is expected during stimulation, persistence beyond several months is rarely reported. In this patient, testosterone normalised spontaneously over 18 months, suggesting a benign, self-limiting process, though further evaluation is ongoing. It is possible that in women undergoing fertility preservation, prolonged post-stimulation hyperandrogenaemia may occur and resolve without intervention. Recognition of this phenomenon may avoid unnecessary invasive investigations, reduce patient anxiety, and provide reassurance during follow-up. Patient gave consent for this case to be presented.