Endocrine Abstracts

Lipodystrophic syndromes are a heterogeneous group of usually rare disorders, which have in common the selective and irreversible deficiency of adipose tissue in the absence of nutritional deprivation or catabolic state. Clinically, they are characterized by insulin resistance, related to a state of hypoleptinemia, with manifestations such as polycystic ovarian syndrome, type 2 diabetes mellitus, severe hypertriglyceridemia, and steatohepatitis among their most frequent metabolic complications. Within the lipodystrophic syndromes we must differentiate between congenital and acquired and within the congenital, generalized and partial. Partial congenital lipodystrophy has an asymmetric distribution of fat, with loss of adipose tissue in the extremities, predominantly in the lower limbs, thighs, and buttocks, with the consequent accumulation of fat in the neck, chin, and abdominal fat. That is why, among its differential diagnoses, we must include Cushing’s syndrome in patients. We present the case of a patient, with Cushingoid phenotype, with diabetes mellitus, severe hypertriglyceridemia and visual disturbances with a diagnosis of retinitis pigmentosa, who presents data of ACTH-dependent biochemical hypercortisolism, confirmed a pituitary macroadenoma on MRI, the patient underwent resection. Transsphenoidal adenoma, confirming the presence of an ACTH-producing pituitary adenoma in the Immunohistochemistry with ACTH + receptors in the tumor. At first, it seemed strange to us to associate retinitis pigmentosa with Cushing’s disease, but no reports were found. We request a genetic study of retinitis pigmentosa in our center. We are informed that two important genetic changes have been detected in other genes: A homozygous change in the LIPE gene (c.551C>A (p.S184*). This gene has been associated with autosomal inheritance type 6 partial lipodystrophy recessive. We conclude with a LIPE gene mutation associated with retinitis pigmentosa in a patient with Cushing’s adenoma.