title: Turner syndrome: From birth to adulthood.
abstract: BACKGROUND
  Turner syndrome is characterized by a great variability of clinical manifestations caused by a total or partial loss of X-chromosome.
  
  
  METHODS
  A retrospective, descriptive study of the diagnosis, course, and current status of patients with Turner syndrome followed up at our section over the past 40 years, based on review of medical records supplemented with a telephone survey.
  
  
  RESULTS
  Forty-five female patients with a current mean age of 22.95years (range 2-38) and a mean age at diagnosis of 4.71 were included. Sixty-three percent of them showed a mosaic karyotype. Short stature was the most common reason for consultation (54%), with increased prenatal diagnosis in most recent cases. Seventy-two percent have been treated with growth hormone, together with oxandrolone in 26%. Final stature was short in 69% of patients. Gonadal failure was found in 66%; most of whom received replacement therapy. Three patients achieved pregnancy by oocyte donation. The 31 adult patients are mainly monitored by the endocrinology (37.5%) and/or gynecology (34.4%) departments. As regards psychosocial aspects, 22% required support during school, and 80% completed middle to high level education. Two patients died, one due to dissecting aortic aneurysm and the other one, who had multiple pathological conditions, from respiratory failure.
  
  
  CONCLUSIONS
  Short stature is the main cause of diagnosis in patients with Turner syndrome; most cases show genetic mosaicism. The most common clinical manifestations include short stature and gonadal failure. Eighty percent of patients complete middle or high education. In adulthood, follow-up is irregular, sometimes scarce, and clearly improvable.
authors: Sección de Endocrinología Pediátrica, Servicio de Pediatría, Hospital Universitario de Cruces, Barakaldo, Bizkaia, España. Electronic address: isarios05@hotmail.com.
authors: Isabel
authors: I
authors: Ríos Orbañanos
authors: Sección de Endocrinología Pediátrica, Servicio de Pediatría, Hospital Universitario de Cruces, Barakaldo, Bizkaia, España.
authors: Amaia
authors: A
authors: Vela Desojo
authors: Unidad de Epidemiología Clínica, Hospital Universitario de Cruces, Barakaldo, Bizkaia, España.
authors: Lorea
authors: L
authors: Martinez-Indart
authors: Sección de Endocrinología Pediátrica, Servicio de Pediatría, Hospital Universitario de Cruces, Barakaldo, Bizkaia, España.
authors: Gema
authors: G
authors: Grau Bolado
authors: Sección de Endocrinología Pediátrica, Servicio de Pediatría, Hospital Universitario de Cruces, Barakaldo, Bizkaia, España.
authors: Amaya
authors: A
authors: Rodriguez Estevez
authors: Sección de Endocrinología Pediátrica, Servicio de Pediatría, Hospital Universitario de Cruces, Barakaldo, Bizkaia, España.
authors: Itxaso
authors: I
authors: Rica Echevarria
mesh_terms: D000293:Adolescent; D000328:Adult; D002318:Cardiovascular Diseases / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D057210:Delayed Diagnosis; D004392:Dwarfism / Q000188:drug therapy / Q000209:etiology; D005260:Female; D005500:Follow-Up Studies; D020249:Hormone Replacement Therapy; D019382:Human Growth Hormone / Q000627:therapeutic use; D006801:Humans; D007247:Infertility, Female / Q000188:drug therapy / Q000209:etiology; D007621:Karyotyping; D007859:Learning Disabilities / Q000209:etiology; D009030:Mosaicism; D018587:Oocyte Donation; D010074:Oxandrolone / Q000627:therapeutic use; D010641:Phenotype; D012189:Retrospective Studies; D014424:Turner Syndrome / Q000188:drug therapy / Q000235:genetics / Q000473:pathology / Q000523:psychology; D055815:Young Adult
chemical_list: D019382:Human Growth Hormone; D010074:Oxandrolone
keywords: Fallo gonadal; Gonadal failure; Short stature; Síndrome de Turner; Talla baja; Turner syndrome