title: Cholestasis Reveals Severe Cortisol Deficiency in Neonatal Pituitary Stalk Interruption Syndrome.
abstract: OBJECTIVE
  Cholestasis has been reported during the course of congenital hypothalamic-pituitary deficiency, but crucial information is lacking regarding both its origin and prognosis. We aimed to characterize the course of cholestasis and factors contributing to it in patients with deficiency due to pituitary stalk interruption syndrome (PSIS).
  
  
  METHODS
  We conducted a retrospective single-center, case-cohort study including 16 patients with PSIS diagnosed before one year of age. We collected clinical and biological parameters from medical records and compared the characteristics of the endocrine syndrome in PSIS patients with and without cholestasis.
  
  
  RESULTS
  5/16 patients had cholestasis, all with a neonatal onset and multiple hypothalamic-pituitary deficiency. Patients with cholestasis presented with lower Apgar score and higher rate of ophthalmic malformations: 3/5 vs 1/11, p = 0.03 and 5/5 vs 4/11, p = 0.02, respectively. The plasma cortisol level was strongly decreased in patients with cholestasis: 12.4 ng/mL (8-15 ng/mL) vs 79.4 ng/mL (10-210 ng/mL), p = 0.04. Cholestasis resolved within 9 months following hormone supplementation. No development of chronic liver disease was observed during a median follow-up of 9.4 years (range, 1.3-13.3 years).
  
  
  CONCLUSIONS
  Cholestasis is a frequent symptom at presentation of PSIS during the neonatal period that may help earlier diagnosis and that indicates a profound cortisol deficiency.
authors.affiliation: Pediatric Hepatology and Liver Transplantation Unit, Reference centre for pediatric liver diseases-DHU Hepatinov, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, Le Kremlin Bicêtre, France.|Institut National de la Santé et de la Recherche Médicale Unité 1151 et Centre National de la Recherche Scientifique, UMR8253, Paris, France.|Université Paris Descartes, Sorbonne Paris Cité, Faculté de médecine, Paris, France.
authors.forename: Francois-Xavier
authors.initials: FX
authors.lastname: Mauvais
authors.affiliation: Pediatric Hepatology and Liver Transplantation Unit, Reference centre for pediatric liver diseases-DHU Hepatinov, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, Le Kremlin Bicêtre, France.|Institut National de la Santé et de la Recherche Médicale UMR-S 1174, Orsay, France.|Université Paris-Sud 11, Faculté de médecine, Le Kremlin Bicêtre, France.
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Gonzales
authors.affiliation: Biochemistry laboratory, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, Le Kremlin-Bicêtre, France.
authors.forename: Anne
authors.initials: A
authors.lastname: Davit-Spraul
authors.affiliation: Pediatric Hepatology and Liver Transplantation Unit, Reference centre for pediatric liver diseases-DHU Hepatinov, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, Le Kremlin Bicêtre, France.|Institut National de la Santé et de la Recherche Médicale UMR-S 1174, Orsay, France.|Université Paris-Sud 11, Faculté de médecine, Le Kremlin Bicêtre, France.
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Jacquemin
authors.affiliation: Université Paris Descartes, Sorbonne Paris Cité, Faculté de médecine, Paris, France.|Pediatric Endocrinology Unit, Fondation Ophtalmologique Adolphe de Rothschild, Paris, France.
authors.forename: Raja
authors.initials: R
authors.lastname: Brauner
mesh_terms: D001647:Bile Acids and Salts / Q000097:blood; D001663:Bilirubin / Q000097:blood; D002779:Cholestasis / Q000150:complications*; D006801:Humans; D006854:Hydrocortisone / Q000172:deficiency*; D007223:Infant; D007231:Infant, Newborn; D010902:Pituitary Gland / Q000473:pathology*; D012307:Risk Factors; D013577:Syndrome; D016896:Treatment Outcome; D005723:gamma-Glutamyltransferase / Q000378:metabolism
chemical_list: D001647:Bile Acids and Salts; D005723:gamma-Glutamyltransferase; D001663:Bilirubin; D006854:Hydrocortisone
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