Endocrine Abstracts

Introduction: There is a large body of evidence to suggest that the GH axis plays an important role in brain myelination. However, results from studies in humans with an abnormal GH axis have varied and therefore there remains no consensus as to whether the GH/IGF1 axis plays a significant role in neural development. No previous studies have used diffusion tensor imaging (DTI) a sensitive magnetic resonance imaging (MRI) technique for studying brain white matter tracts, to add...

Background: SOX2 is a member of the SOX family of transcription factors (SRY-related high-mobility group (HMG) box). Heterozygous, de novo, loss-of-function mutations were initially reported in patients with bilateral anophthalmia/microphthalmia, developmental delay, male genital tract abnormalities, oesophageal atresia and sensorineural hearing loss. We have recently reported a number of SOX2 mutations in patients with anterior pituitary hypoplasia and hy...

Introduction: Pituitary adenomas are uncommon in childhood and adolescence and knowledge of long-term outcomes is sparse. We describe a large cohort of patients, now attending our adult clinic.Patients and methods: Retrospective review of patients aged ≤18 years at diagnosis of a pituitary adenoma.Results: There were 24 patients (18 female), mean age at diagnosis 15.6 (range 11–18) years, current age 25.5 (14–47). O...