ABSTRACT
We report the case history of a 32-year-old man with no phenotypical abnormalities who presented with infertility. Semen analysis revealed azoospermia and testicular biopsy confirmed Sertoli cell-only (SCO) syndrome. Karyotyping revealed 47,XYY and pituitary hyperplasia was found on MRI pituitary. In our patient, 47,XYY karyotype is likely to have given rise to SCO syndrome that in turn resulted in pituitary hyperplasia. The patient was evaluated by various members of the multidisciplinary team including the pituitary surgeon, endocrinologist and andrologist. The patient's partner successfully delivered a healthy baby via in vitro fertilisation with donor sperm. This triad of diagnoses (SCO syndrome, 47,XYY karyotype and pituitary hyperplasia) has not been reported previously. SCO syndrome should be considered in the presence of azoospermia, elevated follicle-stimulating hormone, low inhibin-B and normal testosterone levels. Our case report also highlights the importance of excluding genetic causes of infertility even when the patient has no phenotypical abnormalities.
Subject(s)
Infertility, Male/diagnosis , Pituitary Diseases/diagnosis , Sertoli Cell-Only Syndrome/diagnosis , Sex Chromosome Disorders/diagnosis , XYY Karyotype/diagnosis , Adult , Diagnosis, Differential , Humans , MaleABSTRACT
A 55-year-old man with poorly controlled type 1 diabetes with microvascular and macrovascular complications presented with a 1-week history of painful erythematous swelling on the dorsum of the left foot with two areas of foot ulceration. Inflammatory markers were raised. MRI of the left foot revealed a soft tissue swelling on the dorsum of the left foot, marrow oedema and destruction of several small joints of the foot, indicating osteomyelitis and Charcot neuroarthropathy (CN). The soft tissue swelling on the dorsum of the left foot was debrided; per-operatively bone destruction of base of the fifth metatarsal was found. The patient received intravenous antibiotics for 6 weeks. The clinical features of CN including erythema, oedema and elevated temperature of the left foot settled with off-loading the foot in an air cast walker after 6 months. Our case highlights the need to recognise CN in an acutely inflamed foot of diabetic patients with neuropathy, even when other conditions like soft tissue infection and osteomyelitis can explain the clinical features.
