Fax +41 61 306 12 34 E-Mail karger@karger.ch www.karger.com Original Paper Neuroendocrinology DOI: 10.1159/000324087 Pituitary Stalk Dysgenesis-Induced Hypopituitarism in Adult Patients: Prevalence, Evolution of Hormone Dysfunction and Genetic Analysis Eva Fernandez-Rodriguez   a Celsa Quinteiro   b Jesus Barreiro   c Mónica Marazuela   g Inmaculada Pereiro   d Roberto Peinó   a Jose Manuel Cabezas-Agrícola   a Fernando Dominguez   b, e Felipe F. Casanueva   a, f Ignacio Bernabeu   a a  Endocrinology Division, Complejo Hospitalario Universitario de Santiago de Compostela (CHUS), SERGAS, Departamento de Medicina, Universidad de Santiago de Compostela, b  Fundación Pública Galega de Medicina Xenómica (Unidad de Medicina Molecular), CHUS, c  Paediatric Endocrinology Division, CHUS, SERGAS, Departamento de Pediatria, Universidad de Santiago de Compostela, d  Neuroradiology Division, CHUS, SERGAS, e  Physiology Department, Universidad de Santiago de Compostela, and f  Centro de Investigación Biomédica en Red (CIBER) de Fisiopatología Obesidad y Nutrición, Instituto Salud Carlos III, Santiago de Compostela, and g  Endocrinology Division, Hospital Universitario de La Princesa, Universidad Autónoma de Madrid, Madrid, Spain hood in 30.8%. Perinatal complications or gene mutations were present in 26.9 and 4.3% of patients, respectively. At first assessment, 92.3% of patients had growth hormone (GH) deficiency. 26.9% presented as combined pituitary de- ficiencies and 7.6% as panhypopituitarism. Hormone defi- ciencies were progressive during follow-up in 84.6%. 96% progressed to multiple deficiencies and 46% to panhypopi- tuitarism. No significant association was found between hor- monal dysfunction and previous perinatal damage or breech delivery (p = 0.17), PROP1 mutations (p = 0.26) or pituitary stalk visibility on MRI (p = 0.52). No mutations in POU1F1, HESX1 and LHX-4 genes were detected. Conclusion: In this study, PSD prevalence in adult hypopituitary patients was 11.2%. Typical clinical presentation includes isolated or com- bined pituitary hormone deficiencies during the pediatric age, which usually progress to combined or complete hypo- pituitarism in adulthood. Phenotype is highly variable de- pending on hormone profile and age at onset. Copyright © 2011 S. Karger AG, Basel Key Words Hypopituitarism  Ectopic neurohypophysis  PROP1 mutation  Pituitary stalk dysgenesis  Magnetic resonance imaging  Congenital hypopituitarism Abstract Objectives: To investigate the prevalence of pituitary stalk dysgenesis (PSD) in adult hypopituitary patients by describ- ing the chronology of hormone deficiencies and their poten- tial correlation with traumatic delivery, mutations in genes required for pituitary development and function and pitu- itary stalk visibility on MRI. Design: Retrospective and pro- spective study involving 231 hypopituitary patients, includ- ing 26 diagnosed with PSD. Clinical, biochemical and radio- logical studies were reviewed. Molecular analyses of HESX1, LHX4, PROP1 and POU1F1 genes were performed prospec- tively. Results: PSD was present in 11.2% of hypopituitary patients. PSD was diagnosed before 14 years of age in 46.2% of cases, between 14 and 18 years of age in 23%, and in adult- Received: June 17, 2010 Accepted after revision: January 3, 2011 Published online: February 8, 2011 I. Bernabeu Endocrinology Division, Hospital Clinico Universitario Travesía da Choupana s/n ES–15706 Santiago de Compostela (Spain) Tel. +34 981 951 245, E-Mail ignacio.bernabeu.moron  @  sergas.es © 2011 S. Karger AG, Basel 0028–3835/11/0000–0000$38.00/0 Accessible online at: www.karger.com/nen