title: Pituitary stalk interruption syndrome in 53 postpubertal patients: factors influencing the heterogeneity of its presentation.
abstract: BACKGROUND
  Pituitary stalk interruption syndrome (PSIS) may induce an isolated growth hormone (GH) deficiency or multiple hypothalamic-pituitary (HP) deficiencies. Patients with multiple HP deficiencies, primarily those with adrenocorticotropin (ACTH) deficiency, are at increased risk of morbidity and mortality. Our objective was to identify the factors influencing each symptom and the MRI features of the syndrome to enhance its diagnosis and genetic analysis.
  
  
  METHODS
  This study was a retrospective, single-center, case-cohort study of 53 patients with PSIS who had reached pubertal age.
  
  
  RESULTS
  Patients were classified as having an isolated GH deficiency (n = 24, Group 1) or HP deficiencies (n = 29, Group 2); of these, 19 had complete HP deficiency, and 10 had GH deficiency associated with TSH (n = 4), TSH and ACTH (n = 3), TSH and gonadotropin (n = 1) deficiencies or amenorrhea (n = 2). The following features were less frequent in Group 1 than in Group 2: breech presentation (4% vs 35%, P = 0.008), hypoglycemia (0% vs 59%, P<0.00001), micropenis (13% vs 69%, P<0.003), hypothalamic origin (0% vs 52%, P<0.000001), ophthalmic malformation (8% vs 38%, P<0.02) and psychomotor delay (0% vs 31%, P<0.004). The frequencies of all other malformations were similar in both groups (37% vs 59%). A visible pituitary stalk was characteristic of patients belonging to Group 1 (P<0.0002). The GH peak was greater in Group 1 than in Group 2 (P<0.0003), as was the anterior pituitary height (P = 0.01).
  
  
  CONCLUSIONS
  The factors that best discriminate patients with multiple HP deficiencies from those with an isolated GH deficiency are breech presentation, hypoglycemia, and micropenis. No patient with an isolated GH deficiency had psychomotor delay, but associated malformations and/or syndromes, with the exception of ophthalmic disorders, occurred with similar frequencies in both groups. We have also shown that each of the above characteristics is associated with a given HP deficiency and/or malformation/syndrome in the majority of cases.
authors: Université Paris Descartes, Sorbonne Paris Cité, and Fondation Ophtalmologique Adolphe de Rothschild, Paris, France.
authors: Luu-Ly
authors: LL
authors: Pham
authors: Pierre
authors: P
authors: Lemaire
authors: Annie
authors: A
authors: Harroche
authors: Jean-Claude
authors: JC
authors: Souberbielle
authors: Raja
authors: R
authors: Brauner
mesh_terms: D000293:Adolescent; D000324:Adrenocorticotropic Hormone / Q000172:deficiency; D002648:Child; D002675:Child, Preschool; D005260:Female; D013006:Growth Hormone / Q000172:deficiency*; D006801:Humans; D007018:Hypopituitarism / Q000473:pathology*; D007031:Hypothalamus / Q000473:pathology*; D007223:Infant; D008297:Male; D010902:Pituitary Gland / Q000473:pathology*; D011627:Puberty; D012189:Retrospective Studies
chemical_list: D000324:Adrenocorticotropic Hormone; D013006:Growth Hormone