Endocrine Abstracts

Introduction: Septo-optic dysplasia (SOD) is characterized by a combination of midline forebrain, pituitary and eye abnormalities. We aimed to evaluate the clinical, neuroradiological and endocrine features of patients with SOD and multiple pituitary hormone deficiencies (MPHD).Design: Retrospective data were collected from 76 patients with SOD and 26 with MPHD, followed at a single centre. SOD patients were divided into two groups: i) with pituitary hor...

Introduction: Children with TPS and/or ICDI represent a diagnostic and management conundrum. Agreed radiological criteria for TPS are lacking.Aims: To longitudinally characterize the neuroradiological features of children presenting with TPS and/or ICDI due to different aetiologies (oncological, inflammatory, idiopathic).Methods: We searched the terms ‘thickened pituitary stalk’ or ‘idiopathic diabetes insipidus&#146...

Introduction: Multiple pituitary hormone deficiency (MPHD) and septo-optic dysplasia (SOD) are well known causes of hypopituitarism, but children with optic nerve hypoplasia (ONH) may also be at risk of hormone and neurocognitive disturbances. Clinical and neuroradiological findings of these three related conditions are characterised in this study, aiming to understand their pathophysiology.Design: Data from 140 patients with hypopituitarism (MPHD, SOD) ...

Introduction: Thickened pituitary stalk (TPS) and/or idiopathic central diabetes insipidus (ICDI) are rare in childhood, presenting to different (endocrine, oncology, ophthalmology) specialties. In the absence of other diagnostic features, agreed radiological definitions, biopsy (often too dangerous) or consensus management guidance, subsequent surveillance and treatment are uncertain. Cases may remain undiagnosed or evolve over decades.Aims: i) To longi...

Introduction: Ectopic posterior pituitary (EPP) is a neuroimaging diagnosis frequently identified together with other hypothalamo-pituitary (H-P) abnormalities [hypoplastic anterior pituitary and thin interrupted stalk -Pituitary Stalk Interruption Syndrome (PSIS)] and associated with variable endocrine phenotypes evolving over time. We aim to describe the spectrum of hormonal deficiencies and neuroimaging abnormalities in a large cohort of children with EPP.<p class="abst...

Introduction: Paired box gene 8 (PAX8) is a key transcription factor required both for normal fetal thyroid development and maintenance of the differentiated thyroid phenotype, mediating transcriptional activation of SLC5A5, TG, and TPO, and synergizing with NKX2-1 at the TG promoter. Heterozygous PAX8 mutations are a rare but well-recognized cause of congenital hypothyroidism (CH) due to thyroid dysgenesis (TD), and are classically associated with thyroid hypoplasia. However,...