Endocrine Abstracts

The pituitary gland is the master gland controlling many other hormone secreting organs.The gland lies within the sella turcica at the base of the brain to which it is attached by the pituitary stalk or infundibulum. Lactotrophs, somatotrophs, thyrotrophs, corticotrophs and gonadotrophs in the anterior pituitary gland secrete the polypeptide hormones prolactin (PRL), growth hormone (GH), thyroid stimulating hormone (TSH), adrenocorticotropic hormone (ACTH) and luteinizing (LH)...

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...

Introduction: Pseudohypoparathyroidism type 1A (PHP1A) is a rare genetic disease characterized by resistance to parathyroid hormone along with hormonal resistance and features of Albright hereditary osteodystrophy (AHO). This is caused by heterozygous inactivating mutations in the maternal allele of the GNAS gene, which encodes the stimulatory G-protein alpha subunit (Gsα) and regulates production of second messenger cyclic AMP. Here, we report a previously undescribed GN...

Introduction: The insulin-like growth factor 1 receptor (IGF1R) gene, located on chromosome 15q26.3, encodes the 1367 aa tyrosine kinase receptor IGF1R which is involved in many processes, including growth. Few heterozygous mutations of IGF1R leading to IGF-I resistance have been described in patients with intrauterine and postnatal growth retardation, microcephaly and variable learning difficulties. We report previously undescribed IGF1R nonsense variant in a child with norma...

Background: PWS is a rare genetic neurodevelopmental disorder characterized by hyperphagia, obesity, hormonal deficiencies, and problem behaviors for which there is no approved treatment. DESTINY PWS (C601) was an international, placebo-controlled, Phase 3 study of DCCR (diazoxide choline) extended-release tablet in participants with PWS, age 4 and older with hyperphagia. C602 is a long-term, open label extension to C601. DCCR administration to participants with PWS in these s...

Background: The incidence of Paediatric type 2 diabetes is increasing, especially in areas of deprivation.Aim: To describe the cohort of CYP with T2D in Royal London Hospital over the period 2009–2018.Methods: Retrospective analysis of patient cohort.Results: Number of new patients doubled from 2.6/year in 2009–2013 to 5.3/year in 2014–2018. Prevalence in our cohort is 7.5% (national average of...

GH concentrations are high at birth but it is unclear whether and where GH signaling takes place at this time. We assessed the response to GH in young normal and GH-deficient (GHD) pups.Transgenic M2-GRF mice were significantly GHD from birth. Weight and plasma IGF1 concentration were normal, but reduced at 6–8 day of age (P<0.01). 3 and 10-day-old GHD and normal (WT) mice were treated with bovine GH (bGH, 10 μg/g bw s.c. bd) or ve...

Introduction: Underlying causes of short stature are difficult to establish and many patients with short stature do not have a clear diagnosis. Careful examination and investigation of patients with short stature may identify additional features that help to make a diagnosis or direct genetic testing. Here we describe a patient with severe short stature with additional features on examination and skeletal survey in keeping with KBG syndrome. In addition, the patient developed ...

Introduction: Autosomal dominant hypocalcaemia (ADH) is caused by activating mutations of the calcium sensing receptor (CaSR). Symptomatology ranges from asymptomatic hypocalcaemia to paraesthesia, tetani, laringospasm and, seizures. This is the first report of congenital hyperinsulinism (CHI) in a child with ADH.Case report: A female infant, born at term from non-consanguineous parents, presented on D2 with persistent asymptomatic hypoglycaemia requirin...

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...