hrp0092p2-236 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Isolated Premature Menarche into Two Siblings with Neurofibromatosis Type 1

Blackburn James , Didi Mohammed , Senniappan Senthil

Background: Neurofibromatosis type 1(NF1) is an autosomal dominant genetic disorder caused by NF1 mutation. The condition is typified by the development of benign and malignant tumours in both the central nervous system and peripheral tissues. We present two siblings diagnosed with NF1 who presented at an early age with isolated menarche.Case Presentation: Sibling 1 – A 7-year-old patient w...

hrp0089p3-p178 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Congenital Hyperinsulinism in Children with Beckwith-Wiedemann Syndrome

Gubaeva Diliara , Melikyan Maria , Didi Mohammed , Senniappan Senthil

Introduction: Beckwith-Wiedemann syndrome (BWS) is a multisystem imprinting disorder. Approximately 50% of patients with BWS develop congenital hyperinsulinism (CHI). In this report, we describe the main clinical features in a group of patients with BWS and CHI.Study: Clinical and laboratory data was collected from all patients with BWS under the care of endocrine units at Alder Hey Children’s Hospital (Liverpool, UK) and Endocrine Research Centre (...

hrp0086p2-p187 | Bone & Mineral Metabolism P2 | ESPE2016

Is NOTCH-Sonic Hedgehog Signalling Pathway the Missing Link Between Hajdu-Cheney Syndrome and Syringomyelia?

Patil Prashant , Dharmaraj Poonam , Fryer Alan , Didi Mohammed

Background: Hajdu-Cheney syndrome (HCS) is a rare autosomal dominant condition characterized by osteoporosis, acro-osteolysis, short stature and specific craniofacial features and is caused by mutations in the NOTCH2 gene which codes for a single-pass transmembrane protein that plays a critical role in skeletal development and bone remodelling. Syringomyelia has been reported in 5 of 75 reported cases of HCS worldwide. The mechanism for t...

hrp0082p2-d3-509 | Perinatal and Neonatal Endocrinology | ESPE2014

Neonatal Pituiiary–Thyroid Axis Dysregulation with Combined Thyroid Hormone and TSH Resistance in Infant with Trisomy 21 and Maternal Subclinical Hypothyroidism

Soni Astha , Avula Shivaram , Didi Mohammed , Ng Sze May

Background: Trisomy 21 is associated with dysregulated pituitary thyroid axis with higher TSH and lower FT4 than controls. This may be due to genomic imbalance from trisomy of chromosome 21. Transient congenital hypothyroidism (CH) in newborns is recognised in association with maternal thyroperoxidase (TPO) antibody positivity. ‘Thyroid hormone resistance’ in infancy in CH is also been described.Objective and hypotheses: We report an...

hrp0082p2-d3-510 | Perinatal and Neonatal Endocrinology | ESPE2014

Neonates with Acute Kidney Injury Continue to be at Risk of Iatrogenic Iodine Toxicity and Hypothyroidism with Attendant Risk to the Developing Brain

Frerichs Carley , Holt Richard , Morgan Henry , Jones Caroline , Didi Mohammed

Background: There are published recommendations for neonates to avoid exposure to iodine. Iodine is trapped by the thyroid gland from the blood stream and used for the synthesis of thyroid hormones. Any excess is excreted almost entirely in the urine. Acute kidney injury, especially anuria places infants at risk of toxicity when exposed to iodine and paradoxical hypothyroidism can occur (Wolff–Chaikoff effect). Hypothyroidism of sufficient severity to seriously put the br...

hrp0084p2-485 | Hypo | ESPE2015

Is Bedside Monitoring of Blood Beta-Hydroxybutyrate Levels Reliable in the Management of Hypoglycaemia in Children?

Phanse Supriya , Collingwood Catherine , Alsaffar Hussain , Didi Mohammed , Senniappan Senthil

Background: Bedside blood ketone measurement has often been used in the management of diabetic ketoacidosis. However there is no available data on its reliability in the evaluation of hypoglycaemia in children. We aimed to assess the reliability of bedside ketones (β-hydroxybutyrate, BHB) in the evaluation of hypoglycaemia in children.Objective and hypotheses: To assess reliability of bedside ketone measurement in a clinical setting of hypoglycaemia...

hrp0084p3-1065 | Hypo | ESPE2015

Glycogen-Storage Disease Type VI in a Girl Presenting with Recurrent Ketotic Hypoglycaemia but No Hepatomegaly

Price Victoria , Didi Mohammed , Morris Andrew , Senniappan Senthil

Background: Glycogen-storage disease type VI (GSD VI) is an autosomal recessive disorder due to deficiency of the liver isoform of phosphorylase resulting in abnormal accumulation of glycogen. Patients typically present in early childhood with growth retardation, hepatomegaly, hypoglycaemia and ketosis. Ketotic hypoglycaemia is a relatively common diagnosis (of exclusion) in children presenting with hypoglycaemia.Case: A 3-year-old girl presented with an...

hrp0084p3-1113 | Pituitary | ESPE2015

A Rare case of Congenital Hyperinsulinism Associated with Hypopituitarism due to Pituitary Stalk Interruption Syndrome

Alsaffar Hussain , Phanse Supriya , Didi Mohammed , Senniappan Senthil

Introduction: Congenital hyperinsulinism (CHI) is a rare genetic disorder that is characterised by persistent hypoglycaemia in infants and children. We are reporting a rare case of diffuse CHI who was also found to have hypopituitarism and several other congenital anomalies. A similar association has not been reported in literature.Case: A female baby was born at 42 weeks gestation with a birth weight of 4.185 kg (1.72SDS). She suffered shoulder dystocia...

hrp0084p3-1240 | Turner | ESPE2015

Patients with Turner’s Syndrome Should Have Ophthalmological Examination before Commencing Recombinant GH Treatment

Alsaffar Hussain , Thomason Eleanor , Blair Joanne , Didi Mohammed

Introduction: Turner’s syndrome (TS) is caused by an abnormality of one of the X chromosomes. Short stature or slow growth is one of the first manifestations of TS and it is recommended that GH therapy should be initiated as soon as it becomes apparent that affected girls are not growing normally to optimise final adult height. Idiopathic intracranial hypertension (IIH) is a well-known side effect of GH therapy, and it has also been reported in girls with TS with or witho...

hrp0092fc9.2 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Heterozygous Insulin Receptor (INSR) Mutation associated with Neonatal Hyperinsulinaemic Hypoglycaemia and Familial Diabetes Mellitus

Sethi Aashish , Ahmed Syed Haris , Colclough Kevin , Didi Mohammed , Flanagan Sarah , Senniappan Senthil

Introduction: Mutations in Insulin Receptor (INSR) is usually associated with insulin resistance and hyperglycemia. Homozygous or compound heterozygous mutations in INSR are usually linked with Rabson-Mendenhall or Donohue syndromes whilst heterozygous INSR mutations are associated with type A insulin resistance. Various autosomal dominant heterozygous INSR mutations leading to hyperinsulinemic hypoglycemia (HH) have been de...