EUROPEAN JOURNAL OF MEDICAL GENETICS, vol.62, no.8, 2019 (SCI-Expanded)
Woodhouse-Sakati syndrome is a rare genetic syndrome caused by homozygous mutations of the DCAF17 gene. Several endocrine organs may be affected in the course of the disease. We present a new case with pituitary iron deposition, cardiac and intestinal anomalies, with a novel mutation in DCAF17 gene. An 18-year-old female was admitted because of delayed puberty and amenorrhea. Hormonal evaluation revealed combined hyper-hypogonadotropic hypogonadism. GH and IGF-1 levels were low without short stature. ACTH levels were high and cortisol levels were supranormal with the lack of clinical findings of cortisol excess or deficiency. Pituitary MRI indicated paramagnetic substance deposition in gland. On follow-ups, non-autoimmune, insulinopenic diabetes mellitus and secondary hypothyroidism emerged. Woodhouse-Sakati syndrome was diagnosed on the basis of consistent clinical context and subsequently a novel mutation in DCAF17 was detected.