A Novel Missense Mutation in Human Receptor Roundabout-1 <i>(ROBO1)</i> Gene Associated with Pituitary Stalk Interruption Syndrome

• DOI: 10.4274/jcrpe.galenos.2019.2018.0309
• Publication Date: 2019-08-26T11:33:55Z
• Authors: Ziqin Liu; Xiaobo Chen
• Keywords: Male; 0303 health sciences; missense mutation; Pituitary Diseases; Roundabout Proteins; receptor roundabout-1 gene; Mutation, Missense; Case Report; Nerve Tissue Proteins; Syndrome; combined pituitary hormone deficiency; RC648-665; Pediatrics; RJ1-570; Diseases of the endocrine glands. Clinical endocrinology; pituitary stalk interruption syndrome; 03 medical and health sciences; Pituitary Gland, Posterior; Pituitary Gland, Anterior; Child, Preschool; Humans; Receptors, Immunologic

Pituitary stalk interruption syndrome (PSIS) is characterized by the association of an absent or thin pituitary stalk, an absent or hypoplastic anterior pituitary lobe and an ectopic posterior pituitary (EPP) lobe. The causes of this anatomical defect include both genetic and environmental factors. Molecular genetic defects have been indentified in a small number of patients with PSIS. A 4-year-old boy presented with hypoglycemia and hyponatremia associated with growth hormone, thyroid stimulating hormone, and adrenocorticotropic hormone deficiencies. The patient had right sided strabismus. magnetic resonance imaging images showed pituitary hypoplasia, EPP and absent pituitary stalk. A novel Receptor Roundabout-1 (ROBO1) missense mutation (c.1690C>T, p.Pro564Ser) that may contribute to the disorder was found in this patient and his mother, who also exhibited pituitary abnormalities.