Position statement on the diagnosis and management of congenital pituitary deficiency in adults: The French National Diagnosis and Treatment Protocol (NDTP) - 14/07/24

Doi : 10.1016/j.ando.2024.03.001

Sarah Castets ^a,^⁎ , Frédérique Albarel ^b, Anne Bachelot ^c,^d, Gilles Brun ^e,^l, Jérôme Bouligand ^f, Claire Briet ^s,^t, Emmanuelle Bui Quoc ^g, Laure Cazabat ^m, Nathalie Chabbert-Buffet ⁿ, Sophie Christin-Maitre ⁱ, Carine Courtillot ^c, Thomas Cuny ⁱ, Gianpaolo De Filippo ^h, Bruno Donadille ⁱ, Frédéric Illouz ^s,^t, Isabelle Pellegrini ^b, Yves Reznik ^o, Alexandru Saveanu ^e, Natacha Teissier ^p, Philippe Touraine ^j, Marie-Christine Vantyghem ^q, Julia Vergier ^a, Julianne Léger ^h,^r, Thierry Brue ^a,^e,^k, Rachel Reynaud ^a,^e,^k
^a Service de pédiatrie multidisciplinaire, centre de référence des maladies rares de l’hypophyse HYPO, hôpital de la Timone Enfants, Assistance publique–Hôpitaux de Marseille (AP–HM), 13005 Marseille, France
^b Service d’endocrinologie, centre de référence des maladies rares de l’hypophyse HYPO, hôpital de la Conception, Assistance publique–Hôpitaux de Marseille (AP–HM), 13005 Marseille, France
^c IE3M, ICAN, Department of Endocrinology and Reproductive Medicine, Centre de Référence des Maladies Endocriniennes Rares de la Croissance, Centre de Référence des Pathologies Gynécologiques Rares, hôpital Pitié-Salpêtrière, AP–HP, Paris, France
^d Sorbonne université, Paris, France
^e Aix-Marseille University, Institut National de la Santé et de la Recherche Médicale (INSERM), U1251, Marseille Medical Genetics (MMG), Assistance Publique Hôpitaux de Marseille, Reference Center for Rare Pituitary Diseases HYPO, Assistance-Publique des Hôpitaux de Marseille, Laboratory of Molecular Biology, Conception Hospital, Marseille, France
^f Molecular Genetic, Pharmacogenetic and Hormonology, Kremlin-Bicêtre Hospital, Paris-Saclay University, AP–HP, Le Kremlin-Bicêtre, France
^g Ophthalmology Department, Robert-Debré University Hospital, Assistance publique–Hôpitaux de Paris, Paris, France
^h Service d’endocrinologie et diabétologie pédiatrique, centre de référence des maladies endocriniennes de la croissance et du développement, hôpital universitaire Robert-Debré, université Paris Cité, Assistance publique–Hôpitaux de Paris, Paris, France
ⁱ Department of Endocrinology, Diabetology and Reproductive Medicine, Centre de Référence des Maladies Endocriniennes Rares de la Croissance et du Développement (CMERC), Centre de Compétence HYPO, Hôpital Saint-Antoine, Sorbonne University, Assistance publique–Hôpitaux de Paris, 184, rue du Faubourg Saint-Antoine, 75012 Paris, France
^j Service d’endocrinologie et médecine de la reproduction, centre de maladies endocrinennes rares de la croissance et du développement, médecine-hôpital Pitié-Salpêtrière, Sorbonne université, Paris, France
^k Inserm, MMG, Laboratory of Molecular Biology, Hospital La Conception, Aix-Marseille University, AP–HM, Marseille, France
^l Hôpital Européen, Pôle imagerie médicale, 13003, Marseille, France
^m Department of Endocrinology, Diabetology and Nutrition, Ambroise Paré Hospital, AP-HP, UVSQ, Boulogne-Billancourt, France
ⁿ Department of Gynecology and Obstetrics, Hôpital Tenon, Assistance Publique-Hôpitaux de Paris, 75020 Paris, France
^o Endocrinology and Diabetes Department, CHU Côte de Nacre and Unicaen, Caen Cedex, France
^p Department of Pediatric Otolaryngology, Robert Debré Hospital, AP-HP Nord, Paris, France
^q Service d’endocrinologie, diabétologie et maladies métaboliques, CHRU de Lille, rue Polonowski, Lille cedex, France
^r Université Paris Cité, NeuroDiderot, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1141, Paris, France
^s Département d’endocrinologie-diabétologie nutrition, Centre de référence des maladies rares de la Thyroïde et des Récepteurs Hormonaux, Endo-ERN centre for rare endocrine diseases, CHU d’Angers, 4, rue larrey, 49100 Angers, France
^t Laboratoire MITOVASC, UMR CNRS 6015, Inserm 1083, Université d’Angers, rue Roger Amsler, 49100 Angers, France

^⁎Corresponding author. Service de pédiatrie multidisciplinaire, hôpital d’Enfants de la Timone, Assistance publique–Hôpitaux de Marseille (AP–HM), 264, rue Saint-Pierre, 13005 Marseille, France.Service de pédiatrie multidisciplinaire, hôpital d’Enfants de la Timone, Assistance publique–Hôpitaux de Marseille (AP–HM)264, rue Saint-PierreMarseille13005France

Abstract

Pituitary deficiency, or hypopituitarism, is a rare chronic disease. It is defined by insufficient synthesis of one or more pituitary hormones (growth hormone, TSH, ACTH, LH-FSH, prolactin), whether or not associated with arginine vasopressin deficiency (formerly known as diabetes insipidus). In adult patients, it is usually acquired (notably during childhood), but can also be congenital, due to abnormal pituitary development. The present study focuses on congenital pituitary deficiency in adults, from diagnosis to follow-up, including special situations such as pregnancy or the elderly. The clinical presentation is highly variable, ranging from isolated deficit to multiple deficits, which may be part of a syndromic form or not. Diagnosis is based on a combination of clinical, biological (assessment of all hormonal axes), radiological (brain and hypothalamic-pituitary MRI) and genetic factors. Treatment consists in hormonal replacement therapy, adapted according to the period of life and the deficits, which may be progressive. Comorbidities, risk of complications and acute decompensation, and the impact on fertility and quality of life all require adaptative multidisciplinary care and long-term monitoring.

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Keywords : Growth hormone deficiency, Pituitary deficiency, Hypopituitarism, Arginine vasopressin deficiency, Pregnancy, Elderly