Radiologic and hormonal evaluation of pituitary abnormalities in patients with Bardet–Biedl syndrome Tulay Guran a , Gazanfer Ekinci b , Zeynep Atay a , Serap Turan a , Teoman Akcay a and Abdullah Bereket a To describe the structural changes in the pituitary gland and accompanying pituitary hormonal problems in patients with Bardet–Biedl syndrome (BBS), 11 patients with BBS (median age: 12.8 years, range: 2.5–17.8 years; four boys and seven girls) have been examined for the anomalies of the pituitary region detected by MRI. Accompanying clinical, biochemical, and hormonal profiles concerning the pituitary function of the patients have also been investigated. We have found a high incidence of pituitary anomalies on MRI (63%) and a considerable percentage of hormonal derangements (45%) accompanying these. Among the structural pituitary abnormalities, tumoral changes (n = 2), hypoplastic hypophysis, and/or sella (n = 4) and rathke cleft cyst (n = 2) were detected, whereas disturbances of the pituitary hormones such as growth hormone deficiency, hyperprolactinemia, hypogonadotrophic hypogonadism, and central precocious puberty accompanied the pituitary anomalies in these patients. Pituitary abnormalities and pituitary hormonal dysfunction are common findings and, therefore, should be included in the diagnostic criteria of BBS. Clin Dysmorphol 20:26–31 c 2011 Wolters Kluwer Health | Lippincott Williams & Wilkins. Clinical Dysmorphology 2011, 20:26–31 Keywords: Bardet–Biedl syndrome, MRI, pituitary Departments of a Pediatric Endocrinology, Faculty of Medicine, Marmara University and b Radiology, Altunizade, Istanbul, Turkey Correspondence to Dr Tulay Guran, MD, Ferah Mah, Taslibayir Sk, Camlica Ilke 2 Sitesi, 65/5 Uskudar-Istanbul, Turkey Tel: + 90 216 327 10 10 x716; fax: + 90 216 3251589; e-mail: tulayguran@yahoo.com Received 19 December 2009 Accepted 22 August 2010 Introduction Bardet–Biedl syndrome (BBS) (MIM 209900) is an auto- somal recessive, genetically heterogeneous, multisystem disorder caused by altered ciliary function. The disorder is defined by the combination of obesity, pigmentary retinopathy, postaxial polydactyly, polycystic kidneys, hypogonadism, and learning disabilities. The individual clinical phenotype is highly variable. There are many other associated minor clinical manifestations including diabetes, hypertension, congenital heart disease, and Hirschsprung disease. The broad clinical spectrum is because of genetic heterogeneity, with mainly autosomal recessive transmission, but in some cases because of oligogenic inheritance. To date, mutations in 14 different genes (BBS1–BBS14) were shown to be responsible for this phenotype (Bin et al., 2009). Single case report regarding neuroimaging findings in patients with BBS has been presented earlier (Soliman et al., 1996; Erel et al., 2001; Baskin et al., 2002; Rooryck et al., 2007), but specific radiographic studies of pitui- tary anomalies in a series of patients with BBS have not been published. In this study, 11 patients with BBS have been examined specifically for the structural alterations of the pituitary region by MRI. Accompanying clinical, biochemical, and hormonal profile concerning pituitary function of the patients have also been investigated. Methods Patients Children with BBS who have been followed at the Marmara University Pediatric Endocrinology Clinic participated in the study. Diagnosis of BBS was established clinically using the diagnostic criteria proposed by Beales et al. (1999). Physical examinations of the patients were performed with careful delineation of clinical phenotypes. Body weight and height measurements were carried out by a pediatric endo- crinologist. In the morning, blood samples for pituitary function [cortisol, prolactin (PRL), thyroid-stimulating hor- mone, free thyroxine (T4), follicle-stimulating hormone, luteinizing hormone, estradiol (E2)/total testosterone, insulin-like growth factor (IGF1)/IGF binding protein-3], fasting blood sugar/insulin, liver (aspartate aminotransfer- ase/alanine aminotransferase) and renal functions (blood urea nitrogen/creatinine), and serum lipids were drawn. The procedure was performed while inserting an intra- venous line for sedation of the patients for MRI. Studies were performed with the approval of the Ethics Committee of the Marmara University Faculty of Medicine, Istanbul, Turkey. The family of each partici- pant provided a written informed consent. Biochemical assays and endocrine testing Hormone levels were analyzed by commercial kits based on a solid-phase, two-site sequential, or competitive chemilumi- nescent immunometric assay, or electrochemiluminescence 26 Original article 0962-8827 c 2010 Wolters Kluwer Health | Lippincott Williams & Wilkins DOI: 10.1097/MCD.0b013e32833fd528 Copyright © Lippincott Williams & Wilkins. Unauthorized reproduction of this article is prohibited.