2026-04-14T04:28:52Zhttps://recercat.cat/oai/request

oai:recercat.cat:11351/139182025-10-24T10:32:14Zcom_2072_378070com_2072_378040col_2072_378092

00925njm 22002777a 4500 dc Clemente, Maria author aguilar-riera, cristina author Yeste, Diego author González-Llorens, Núria author Mogas Viñals, Eduard author Campos-Martorell, Ariadna author FERNANDEZ ALVAREZ, PAULA author Vázquez, Élida author 2025-10-22T12:32:15Z 2025-10-22T12:32:15Z 2025-07-01 Growth hormone deficiency; Hypopituitarism; Pituitary magnetic resonance imatge Deficiència de l'hormona del creixement; Hipopituitarisme; Imatge per ressonància magnètica hipofisària Deficiencia de la hormona de crecimiento; Hipopituitarismo; Imagen por resonancia magnética hipofisaria Objective To evaluate the baseline and follow-up clinical and radiological characteristics of a paediatric cohort initially diagnosed with isolated congenital growth hormone deficiency (IGHD) and pituitary morphology abnormality in MRI. Patients and methods Observational, ambispective and longitudinal review of paediatric patients with an initial diagnosis of growth hormone deficiency with pituitary morphology abnormality in MRI followed-up in a single tertiary hospital. Results After mean 11.3 (± 3.5DS) years of follow-up, the thirty patients (20 males) were classified into two groups: (1) isolated congenital growth hormone deficiency (IGHD) with 24 patients (9.5 years median follow up), and (2) combined pituitary hormone deficiencies (CPHD) with 6 patients (13.5 years median follow up). Median age at diagnosis was IGHD 3.0 [2.0–4.0] and CPHD 3.0 [1.5–5.2] years. Regarding the cerebral MRI scan results, 2 patients had septo-optic dysplasia (CPHD), 5 had pituitary stalk interruption syndrome (3 IGHD), one had ectopic posterior pituitary (IGHD), 16 had anterior pituitary hypoplasia (15 IGHD) and 6 had the latter two conditions combined (5 IGHD). In genetic studies, 1 of 25 patients had positive NGS panel results and it was in the IGHD group. The target gene detected was GLI2. Clinical exome sequencing was performed with six patients, yielding inconclusive results (1 in the IGHD group and 5 in the CPHD group). Array CGH was performed with eight patients (4 in the IGHD group and 4 in the CPHD group) and was negative in all patients. In the CPHD group, associated deficiencies begin to appear after 5 years [4.0–6.0] median follow-up, with thyrotropin being the most frequent (80%), followed by gonadotropin deficiency. ACTH and AVP deficiencies were less frequent. Conclusions Multiple hormone deficiencies were diagnosed during this cohort’s follow-up evaluation, whose first presentation was isolated growth hormone deficiency and pituitary morphology abnormality in MRI. Pathogenic gene variant involved in congenital hypopituitarism (GLI2) was found in one patient. Regular follow up of pituitary hormonal function in such patients is advisable due to the risk of new added deficiencies. http://hdl.handle.net/11351/13918 Imatgeria per ressonància magnètica Infants Hipòfisi - Malalties - Prognosi Nanisme hipofític - Prognosi DISEASES::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Disease Progression CHEMICALS AND DRUGS::Hormones, Hormone Substitutes, and Hormone Antagonists::Hormones::Peptide Hormones::Pituitary Hormones::Pituitary Hormones, Anterior::Growth Hormone::Human Growth Hormone Other subheadings::Other subheadings::Other subheadings::Other subheadings::/deficiency ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Diagnostic Techniques and Procedures::Diagnostic Imaging::Tomography::Magnetic Resonance Imaging DISEASES::Musculoskeletal Diseases::Bone Diseases::Bone Diseases, Developmental::Dwarfism::Dwarfism, Pituitary NAMED GROUPS::Persons::Age Groups::Child ENFERMEDADES::afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::progresión de la enfermedad COMPUESTOS QUÍMICOS Y DROGAS::hormonas, sustitutos de hormonas y antagonistas de hormonas::hormonas::hormonas peptídicas::hormonas hipofisarias::hormonas adenohipofisarias::hormona del crecimiento::hormona del crecimiento humana Otros calificadores::Otros calificadores::Otros calificadores::Otros calificadores::/deficiencia TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::técnicas y procedimientos diagnósticos::diagnóstico por imagen::tomografía::imagen por resonancia magnética ENFERMEDADES::enfermedades musculoesqueléticas::enfermedades óseas::enfermedades óseas del desarrollo::enanismo::enanismo hipofisario DENOMINACIONES DE GRUPOS::personas::Grupos de Edad::niño Progression from isolated growth hormone deficiency to a combined pituitary hormone deficiency in a cohort of paediatrics patients with pituitary morphology abnormalities on MRI