Endocrine Abstracts

We present 3 children in a single centre with Myhre syndrome (MS) due to a heterozygous SMAD4 Ile500val mutation. Consistent features were brachydactyly, joint restriction, muscular hypertrophy, genital abnormalities, conductive hearing loss and developmental delay. SGA and height were variable. Diagnosis was made by next generation sequencing in patients 1 and 3 and on the skeletal survey in patient 2. Retrospectively, features of Myhre syndrome were present on the s...

We report a case of a girl with severe short stature (-3.5 SD) from the age of 2 years. She was born at term with a normal birth weight (-1.3 SD) to non-consanguineous Pakistani/British parents. She had global developmental delay, hypotonia and microcephaly (-2.0 SD). She also had juvenile xanthogranuloma, alternating esotropia, constipation and initial feeding difficulties. Her current height is -2.9 SD with a normal BMI, aged 11. Serum IGF1 at age 2 years was <25 (49-289...

Duplication of pituitary gland in association with other midline craniofacial anomalies -DPG-plus syndrome - is extremely rare. So far the only described endocrine associations are precocious or delayed puberty. We describe the multifaceted management of a female infant with DPG-plus syndrome. Interestingly, the patient also presented with trans-cranial nasal dermoid cyst and a nasal dimple with protruding hair, which hasn’t been described in previously reported cases. Ou...

Introduction: Chronic autoimmune hypophysitis is a rare disorder characterised by prolonged inflammation of the pituitary gland, with the commonest subtype being lymphocytic hypophysitis. It is often associated with hypopituitarism and is exceedingly rare in the paediatric population. Here, the authors present a novel case of asymptomatic, chronic hypophysitis in a paediatric patient in association with juvenile idiopathic arthritis (JIA). Case report: A...

Introduction: ROHHADNET is a rare syndrome characterized by rapid onset obesity, hypoventilation, hypothalamic dysfunction, autonomic dysregulation and neuroendocrine tumours. Although obesity is the first recognisable feature, there is variable onset of other features, resulting in delayed or missed diagnosis, potentially leading to fatal consequences. We describe two cases with features of ROHHADNET, who had high heterogeneity in clinical spectrum. Cas...

There is growing recognition within Endocrinology physician and patient groups of morbidity and mortality in association with prescribing errors and dysnatraemia, in hospitalised patients with cranial diabetes insipidus (CDI). The study had two aims; firstly, to assess outcomes in hospitalised patients (paediatric and adult) with CDI by review of electronic records from 2012-2021, and secondly, to assess the same patient cohort’s perceptions of their care via telephone qu...

Introduction: Pituitary inflammation (Hypophysitis) is rare in paediatric population and usually results in pituitary enlargement and hypopituitarism. Hypophysitis can be either primary (most commonly lymphocytic, granulomatous or xanthomatous disease) or secondary (consequent to systemic diseases, immunotherapy or alternative sella-based pathologies). We describe the clinical presentation and management of apparent primary lymphocytic hypophysitis in an adolescent girl. Case ...

Background: Lowe Syndrome is an X-linked recessive genetic disorder caused by OCRL gene mutations, which impair intracellular trafficking processes. Signs are multisystemic, including congenital cataracts, intellectual disability and proximal renal tubulopathy. Short stature is a common association, often attributed to chronic kidney disease through childhood. However, recent evidence suggests that the hypothalamo-pituitary-somatotroph axis may play a role. <p class="abste...