title: [Uncommon neonatal case of hypoglycemia: ACTH resistance syndrome].
abstract: Monitoring of blood glucose is usually reported to reduce the risk of hypoglycemia in term newborns with high risk factors and for prematurity in neonatal intensive care unit patients. Differential diagnosis has rarely been discussed. In the eutrophic term newborn, hypoglycemia remains rare and an etiological diagnosis must be made. Intensive management of neonatal hypoglycemia is required to prevent neurodevelopmental defects. Without evident cause or if hypoglycemia persists, a systematic review of possible causes should be made. We report isolated glucocorticoid deficiency diagnosed in an infant at 10 months of age. This boy had neonatal hypoglycemia and mild jaundice that had not been investigated. During his first 9 months of life, he presented frequent infections. At 10 months of age, febrile seizures occurred associated with shock, hypoglycemia, hyponatremia, mild hyperpigmentation, and coma. He was diagnosed with hypocortisolemia and elevated ACTH levels. Brain injury was revealed by MRI after resuscitation, with hypoxic-ischemic and hypoglycemic encephalopathy. The molecular studies demonstrated the presence of p.Asp107Asn and previously unreported frameshift p.Pro281GlnfsX9 MC2R gene mutations. A substitutive hormone therapy was provided and during a follow-up of 12 months no adrenal crisis was noted. We report an unusual case of familial glucocorticoid deficiency with severe neurological injury. This case demonstrates the importance of an appropriate etiological diagnosis in neonatal hypoglycemia.
authors.affiliation: Service de pédiatrie multidisciplinaire, pôle médical et chirurgical de pédiatrie, Aix-Marseille université, hôpital de la Timone-Enfants, Assistance publique des hôpitaux de Marseille, 13005 Marseille, France. Electronic address: odeline.delmas@ap-hm.fr.
authors.forename: O
authors.initials: O
authors.lastname: Delmas
authors.affiliation: Service de pédiatrie multidisciplinaire, pôle médical et chirurgical de pédiatrie, Aix-Marseille université, hôpital de la Timone-Enfants, Assistance publique des hôpitaux de Marseille, 13005 Marseille, France.
authors.forename: C
authors.initials: C
authors.lastname: Marrec
authors.affiliation: Service de neurologie pédiatrique, pôle médical et chirurgical de pédiatrie, Aix-Marseille université, hôpital de la Timone-Enfants, Assistance publique-Hôpitaux de Marseille, 13005 Marseille, France.
authors.forename: E
authors.initials: E
authors.lastname: Caietta
authors.affiliation: Service de pédiatrie multidisciplinaire, pôle médical et chirurgical de pédiatrie, Aix-Marseille université, hôpital de la Timone-Enfants, Assistance publique des hôpitaux de Marseille, 13005 Marseille, France.
authors.forename: G
authors.initials: G
authors.lastname: Simonin
authors.affiliation: Laboratoire d'endocrinologie moléculaire et maladies rares, centre de biologie et pathologie Est, université Lyon-Sud, CHU de Lyon, 69677 Bron, France.
authors.forename: Y
authors.initials: Y
authors.lastname: Morel
authors.affiliation: Service de neuroradiologie diagnostique et interventionelle, pôle de radiologie, Aix-Marseille université, hôpital de la Timone, Assistance publique-Hôpitaux de Marseille, 13005 Marseille, France.
authors.forename: N
authors.initials: N
authors.lastname: Girard
authors.affiliation: Laboratoire d'endocrinologie moléculaire et maladies rares, centre de biologie et pathologie Est, université Lyon-Sud, CHU de Lyon, 69677 Bron, France.
authors.forename: F
authors.initials: F
authors.lastname: Roucher
authors.affiliation: Service de pédiatrie multidisciplinaire, pôle médical et chirurgical de pédiatrie, Aix-Marseille université, hôpital de la Timone-Enfants, Assistance publique des hôpitaux de Marseille, 13005 Marseille, France.
authors.forename: J
authors.initials: J
authors.lastname: Sarles
authors.affiliation: Service de neurologie pédiatrique, pôle médical et chirurgical de pédiatrie, Aix-Marseille université, hôpital de la Timone-Enfants, Assistance publique-Hôpitaux de Marseille, 13005 Marseille, France.
authors.forename: B
authors.initials: B
authors.lastname: Chabrol
authors.affiliation: Service de pédiatrie multidisciplinaire, pôle médical et chirurgical de pédiatrie, Aix-Marseille université, hôpital de la Timone-Enfants, Assistance publique des hôpitaux de Marseille, 13005 Marseille, France.
authors.forename: R
authors.initials: R
authors.lastname: Reynaud
mesh_terms: D000309:Adrenal Insufficiency / Q000150:complications*; D006801:Humans; D007003:Hypoglycemia / Q000209:etiology*; D007231:Infant, Newborn; D008297:Male; D043202:Steroid Metabolism, Inborn Errors / Q000150:complications*