Endocrine Abstracts

Background: Using small for gestational age (SGA) as a surrogate for fetal growth restriction, previous studies link adverse intrauterine environments to greater cardiometabolic risk. However, a fetus may undergo suboptimal fetal growth (SFG) without being SGA. The Manchester BabyGRO Study focused on recruiting pregnancies at greater risk of SFG, including pregnancies with low PAPP-A, where a pattern of reduced skeletal growth has been described(1). Associatio...

Short stature (SS), defined as height ≤−2 SDS for a given population, comprises ~50% of new patient referrals to paediatric endocrine clinics. Since >80% SS children in the UK do not receive a clear diagnosis, enhanced genetic testing and stratification is a fundamental need. Whole-genome sequencing (WGS) was offered to rare disease patients recruited to the 100 000 Genomes Project (100KGP), leading to new clinical diagnoses in ~25% of participants. The 100KGP ...

Background: Craniopharyngioma is a benign tumour involving the hypothalamic and pituitary regions that are involved in the production and secretion of oxytocin. Research has shown that dysfunction of the oxytocin system is associated with neurobehavioural and metabolic outcomes, but less is known for its role in patients with craniopharyngioma, largely due to varied study designs and heterogenous methods of assessing the oxytocin system. This systematic review...

Introduction: Luteinising Hormone Releasing Hormone stimulation test (LHRH) is the gold standard test for diagnosing central precocious puberty (CPP). However, previous studies have advocated using a single LH (Luteinising Hormone) measure to diagnose CPP thus reducing the patient’s investigative burden.Method and aims: We assessed if i) baseline LH levels predicts response on LHRH test ii) the timing of basal LH me...

Early childhood growth failures are associated with significant diagnostic and therapeutic implications. Testing for a panel of genes associated with a poor growth has identified a diagnosis of 3M syndrome. Index case was born at 36 weeks’ gestation with a birth weight of 1.88 kg (>2nd centile) and length 40 cm (<0.4 the centile) with head circumference 45 cm on 50th centile. Her initial assessment noted severe intrauterine growth retardation pattern. She had norm...

Introduction: Lymphocytic hypophysitis is rare in children, with only <100 cases described in the medical literature, of which only a few are biopsy-proven. Usually results in hypophysis and pituitary enlargement. Arginine vasopressin deficiency and growth retardation are the most significant presenting symptoms in children with hypophysitis, different from teenagers in whom adrenal insufficiency, hypogonadism, headache, or diplopia might be the leading ma...

Background: Cardiofaciocutaneous (CFC) syndrome is a rare disorder characterised by multiple abnormalities including congenital heart disease, craniofacial dysmorphology, ectodermal abnormalities, developmental delay, and epilepsy. Case reports of growth hormone (GH) deficiency, hyperprolactinemia, and precious puberty have been reported in association with CFC syndrome. A recent case series and gene knockout study highlighted the mechanistic role of CFC syndr...

Temple syndrome is due to loss of methylation at 14q32. Features are prematurity, low birth weight, hypotonia, feeding difficulties, short stature and early puberty, as well as small hands and feet, mild learning disability and variable obesity. We report monozygotic twins with Temple syndrome. Twin1 was born at 31+2 weeks with mild SGA (1120g, <10th centile), head circumference 27 cm, undescended testes, severe hypotonia and laryngomalacia. He developed camptod...