A5034533090- Growth Hormone and Insulin-like Growth Factors
- Adrenal Hormones and Disorders
- Hormonal Regulation and Hypertension
- Sexual Differentiation and Disorders
- Birth, Development, and Health
- Metabolism and Genetic Disorders
- Genetic Syndromes and Imprinting
- Parathyroid Disorders and Treatments
- Diabetes and associated disorders
- Bone health and treatments
- Lipid metabolism and disorders
- Bone and Joint Diseases
- Childhood Cancer Survivors' Quality of Life
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Cancer, Hypoxia, and Metabolism
- Thyroid Disorders and Treatments
- Diabetes Management and Research
- Obesity, Physical Activity, Diet
- Alkaline Phosphatase Research Studies
- Clinical Nutrition and Gastroenterology
- Hormonal and reproductive studies
- Folate and B Vitamins Research
- Connective tissue disorders research
- Muscle Physiology and Disorders
- Hypothalamic control of reproductive hormones
Leeds Teaching Hospitals NHS Trust
2010-2024
Leeds General Infirmary
2009-2019
University College Hospital
2015
The Tavistock and Portman NHS Foundation Trust
2015
University College London
2015
Boston Children's Hospital
2015
Sheffield Children's Hospital
2007-2008
University of Sheffield
2008
Royal Hospital for Children
2002-2007
Roslin Institute
2002-2007
17Beta-hydroxysteroid dehydrogenase type 3 (17β-HSD3) deficiency is a rare cause of disorders sex development. It leads to an external female phenotype or varying degrees undervirilization in XY patients. We report four cases with 17β-HSD3 deficiency, who presented at different ages complaints. The aim this case series review the clinical, biochemical, and genetic characteristics individuals diagnosed single tertiary center.
An examination of current evidence Glucocorticoids (GC) are important regulators diverse physiological systems and often used in the treatment a number chronic inflammatory, autoimmune, neoplastic diseases. It is estimated that 10% children may require some form GC at point their childhood.1 Impairment childhood growth with an approximate cortisone dose 1.5 mg/kg/day was first described over 40 years ago; osteopenia receiving prednisolone less than 0.16 has also been reported.2,3 The...
It is estimated that 3-30% of cases with isolated GH deficiency (IGHD) have a genetic etiology, number mutations being reported in GH1 and GHRHR. The aim our study was to genetically characterize cohort patients congenital IGHD analyze their characteristics.A total 224 (190 pedigrees) eutopic posterior pituitary were screened for To explore the possibility an association abnormalities multiple hormone deficiencies, we 62 either deficiencies (42 pedigrees), or ectopic (21 pedigrees).Mutations...
Introduction The destination of transgender and gender variant young people referred by the National Health Service (NHS) Gender Identity Development (GIDS) to, discharged from two English paediatric endocrine liaison clinics is not known. Methods 1151 after full assessment GIDS; 827 to University College London Hospital since 2008; 324 Leeds Children’s 2013. Discharge categorisation was agreed criteria. Eleven emigrated 51 self-discharged. 1089 had known outcomes. Results 999/1089 (91.7%)...
Type 1 pseudohypoaldosteronism (PHA) is a rare heterogeneous group of disorders characterised by resistance to aldosterone action. There resultant salt wasting in the neonatal period, with hyperkalaemia and metabolic acidosis. Only after results confirm isolated can diagnosis type PHA be confidently made. further classified into i) renal (autosomal dominant (AD)) ii) multiple target organ defect/systemic recessive (AR)). The aim this case series was characterise mode presentation, management...
Congenital hyperinsulinism (CHI) is a significant cause of hypoglycaemia in neonates and infants with the potential for permanent neurologic injury.Accurate calculations incidence rare diseases such as CHI are important they inform health care planning can aid interpretation genetic testing results when assessing frequency variants large-scale, unselected sequencing databases.Whilst minimal rates have been calculated four European countries, UK not known.In this study we used referral to...
The study aims were to improve our understanding of the mechanisms glucocorticoid-induced growth retardation at plate and determine whether IGF-I could ameliorate effects. Fetal mouse metatarsals cultured for up 10 d with dexamethasone (Dex; 10(-6) m) and/or GH (both 100 ng/ml). Both continuous alternate-day Dex treatment inhibited bone a similar degree, whereas alone or together caused an increase in growth. had no These observations may be explained cellular level; cell proliferation...
Glucocorticoids (GC) are used extensively in children and may cause growth retardation, which is part due to the direct effects of GC on plate. We characterised ATDC5 chondrocyte cell line, mimics vivo process longitudinal bone growth, examine dexamethasone (Dex) prednisolone (Pred) during two key time points life cycle - chondrogenesis terminal differentiation. Additionally, we studied potential for recovery following Dex exposure. During chondrogenesis, Pred exposure at 10(-8) M, 10(-7) M...
Summary aim To compare the relative potency of prednisolone (Pred) and dexamethasone (Dex) on short‐term growth bone turnover. method Prospective study over 16 weeks children randomized to receive Pred (40 mg/m 2 ) or Dex (6·5 for first 5 as part MRC‐ALL97/99 induction chemotherapy acute lymphoblastic leukaemia (ALL). measurements Lower leg length velocity (LLLV) weight, serum IGF‐I, alkaline phosphatase (bALP) levels creatinine‐adjusted, urinary excretion deoxypyridinoline cross‐links...
Background Type I pseudohypoaldosteronism (PHA1) is a rare condition characterised by profound salt wasting, hyperkalaemia and metabolic acidosis due to renal tubular resistance aldosterone (PHA1a) or defective sodium epithelial channels (PHA1b systemic PHA). Our aim was review the clinical presentation related genotype in patients with PHA1. Methods A questionnaire-based cross-sectional survey undertaken through British Society of Paediatric Endocrinology Diabetes (BSPED) examining...
Abstract Context Growth hormone insensitivity (GHI) in children is characterized by short stature, functional insulin-like growth factor (IGF)-I deficiency, and normal or elevated serum (GH) concentrations. The clinical genetic etiology of GHI expanding. Objective We undertook characterization stature patients referred with suspected features which overlapped known GH–IGF-I axis defects. Methods Between 2008 2020, our center received 149 referrals for testing. Genetic analysis utilized a...
There are few data in the paediatric literature on normal cortisol response to stimulation during low dose synacthen test (LDST) (1 microg).To examine responses children, subsequently presumed be normal, who had an LDST anterior pituitary function tests (APFTs).A retrospective review of results children with short stature and growth hormone levels.Of 33 tested, seven suboptimal based accepted criteria (peak <500 nmol/l)--a false positive rate 21%. Only three these a repeat LDST, which was...
Background Patients with homozygous intronic pseudoexon GH receptor ( GHR ) mutations (6Ψ) have growth hormone insensitivity (GHI) (growth failure, IGF1 deficiency and normal/elevated serum GH). We report 9 patients in addition to previously described 11 6Ψ their responses rhIGF1 therapy. Methods 20 (12 males, families, mean age 4.0 ± 2.2 years) were diagnosed genetically our centre. Phenotypic data treatment provided by referring clinicians. Continuous parametric variables compared using...
Background : Phytosterolaemia (sitosterolaemia) is a rare autosomal recessive condition caused by mutations on the ABCG5 and ABCG8 gut transporter proteins. This leads to accumulation of plant-derived cholesterol-like molecules in blood tissues. Case We describe family Bangladesh origin, where three siblings (two males one female) have homozygous for phytosterolaemia, exhibit short stature adrenal failure with female having ovarian failure. Findings The index case (18-year-old her sibling...
Recurrent hypoglycemia can result in significant neurological impairments children and continuous glucose monitoring (CGM) technology has been shown to reduce recurrent conditions such as type 1 diabetes. In the United Kingdom, CGM devices are currently only recommended by National Institute of Clinical Excellence (NICE) for patients with diabetes not other diagnoses.To examine access young people Kingdom.In 2021, British Society Paediatric Endocrinology Diabetes (BSPED) conducted a national...
Growth hormone deficiency (GHD) is the commonest endocrine cause of short stature and may occur in isolation (I-GHD) or combined with other pituitary deficiencies. Around 500 children are diagnosed GHD every year UK, whom 75% have I-GHD. (GH) therapy improves growth GHD, goal achieving a normal final height (FH). GH given as daily injections until adult FH reached. However, many I-GHD their condition reverses, peak detected 64-82% when re-tested at FH. Therefore, some point between diagnosis...
Objectives The homozygous GH receptor ( GHR ) pseudoexon (6Ψ) mutation leads to growth hormone insensitivity (GHI) with clinical and biochemical heterogeneity. We investigated whether transcript heterogeneity (6Ψ- WT -GHR ratio) and/or concurrent defects in other short stature (SS) genes contribute this. Methods 6Ψ- mRNA transcripts of four 6Ψ patients (height SDS −4.2 −3.1) one control fibroblast were by RT-PCR. Transcripts quantified qRT-PCR delta CT analysis compared using ANOVA...
Prompt and accurate diagnosis of skeletal dysplasias can play a crucial role in ensuring appropriate counseling management (both antenatal postnatal). When dysplasia is detected during the period, especially early pregnancy, it be associated with poor prognosis. It important to make presentation inform diagnosis, predict prognosis, provide recurrence risks, options for prenatal genetic testing future pregnancies. Prenatal ultrasound scanning useful tool detect several sonographic...
Abstract Background Sarcopenia predicts morbidity and mortality in end‐stage chronic liver disease (ESCLD). Here, we describe changes body composition children with ESCLD before after transplantation (LT). Methods Retrospective analysis of whole DXA scans performed LT over 4 years. Appendicular whole‐body fat mass lean were expressed as (FMI) (LMI) index z‐scores. was defined leg LMI z‐score <−1.96. Results Eighty‐three or studied. had a positive correlation weight (0.8, p < .01),...