Endocrine Abstracts

Introduction: To date, few cases with both congenital hypopituitarism (CH) and hyperinsulinaemic hypoglycemia (HH) have been reported in the literature. We now report a cohort of 12 cases with CHI associated with HH.Clinical Phenotype: An association between congenital hypopituitarism (CH) and hyperinsulinaemic hypoglycemia (HH) was present in 12 patients (M:F 9:3). Mean age at diagnosis of HH was 0.9 months, whereas mean age at diagnosis of CH was 2.0 y...

Objectives: Current provocative tests for GH deficiency (GHD) are neither 100% sensitive nor specific. GH neurosecretory dysfunction (NSD) refers to the presence of growth failure, normal stimulated GH responses, but impaired spontaneous GH secretion. We describe our experience in managing GHNSD over 7 years.Methods: We retrospectively reviewed a cohort of 106 children admitted for 12-h overnight GH profiles (with 20-min sampling) between 2010 and 2016. ...

Introduction: Central hypothyroidism (CeH) is diagnosed when low thyrotropin (TSH) is associated with a free thyroxine (fT4) below the normal range. Jostel proposed a ’fT4-adjusted TSH’ (TSH index: TSHI = log TSH +0.1345 · fT4.), to estimate the degree of pituitary dysfunction (Jostel et al. Clin End 2009).Methods: Retrospective analysis of patients investigated for pituitary hormone deficiencies (n=276; M:F 166:...

Growth hormone deficiency (GHD) is a licensed and NICE approved indication for growth hormone (GH) treatment but there are no nationally agreed standards for investigation of suspected GHD. Variable practice across the UK could have governance issues and impact on patient experience and equality of access to specialist GH investigation and treatment. Some GH provocation tests carry significant risk and it is therefore essential that these specialist investigations are carried ...

Introduction: ACTH deficiency is life-threatening, but difficult to differentiate from ACTH suppression especially in children and young people (CYP) receiving perioperative corticosteroids for pituitary tumour surgery. In our experience, ACTH is the most, and GH the least robust anterior pituitary hormone, with LH/FSH and TSH intermediate in hierarchical loss.Aims: To assess potential misdiagnosis of ACTH suppression versus deficiency and time to adrena...

Introduction: Patients with mitochondrial disease have abnormal cellular adenosine triphosphate (ATP) generation that results in a broad phenotype with a diverse clinical presentation. Abnormal growth and short stature have been observed in children and adults with mitochondrial disease and we hypothesized that stature in affected individuals would reflect disease severity.Method: We extracted height, weight and molecular genetic data from the UK Mitocho...

Introduction: Duplications of the SOX3 gene at Xq27.1 are known to be associated with a spectrum of forebrain midline defects, isolated or multiple pituitary hormone deficiencies, spina bifida and sometimes learning difficulties. We report three cases of SOX3 duplication with hypopituitarism and differing presentations.Case reports: 1) A male infant presented in neonatal period with poor feeding, prolonged jaundice, central hypothyroidism and inadequate ...

Introduction: Children with Prader-Willi syndrome (PWS) show alterations in infantile, childhood and pubertal growth. Growth Hormone (GH) therapy is recommended due to reported improvements in height velocity (HV) and body composition.Methods: Height SDS (HSDS), BMISDS and HVSDS of children attending a dedicated PWS clinic, 2000–2017, were analysed. To identify changes in growth we compared growth parameters between 2000–2012 and 2013–2017...

Introduction: In children, tumours occupying the pituitary fossa are mainly craniopharyngioma (80–90%) and pituitary adenomas (2–3%). We present two cases of pituitary adenoma and the challenging management when complete surgical resection is not possible. Case 1: A 13.5 year old girl presented with tall stature. Pituitary hormone profile revealed high IGF1 123 nmol/l (24.5–66) and prolactin 722 mU/l (102–496). Growth hormone (GH) was not completely suppres...

Introduction: Abnormalities of the Internal Carotid Artery (ICA) are rare and agenesis has an estimated incidence of 0.01% in the general population. We here report a probable association with congenital hypopituitarism.Case report: A baby girl presented with respiratory distress after the birth and 1 month later, because of prolonged jaundice, was found to have low FT3, FT4, and TSH (FT3 was <2.3 pmol/l FT4 was <3.5 pmol/l, TSH which was <0....

Background: Patients with isolated growth hormone deficiency (GHD) will routinely have an MRI scan of the pituitary and brain to assess pituitary size and presence of any intracranial lesions. The result may change the threshold for monitoring for further hormone deficiencies. However the test may also detect unexpected or unrelated abnormalities.Aim: To review the incidence of normal and abnormal MRI scans in children with a diagnosis of isolated GHD.</...

Introduction: In Prader-Willi Syndrome (PWS), multidisciplinary evaluation is recommended both prior to GH initiation and at regular intervals during treatment.Methods: We reviewed the changes in GH use and the investigations performed prior and during GH therapy, in 58 children, from 2000 to 2017. International consensus recommendations were used as the gold standard of care. Data was analysed to compare four (2000–2004, 2005–2008, 2009–2...

Background: Growth hormone (GH) stimulation testing is necessary for the diagnosis of growth hormone deficiency (GHD). Insulin tolerance test (ITT) has been considered the gold standard for evaluating GHD in adults. However, it carries a risk of rare but severe adverse effects secondary to hypoglycaemia and is therefore avoided in many centres. There is no consensus for the first test in children.Aim: Audit to compare ITT to Arginine test as a first line...

Introduction: 3M syndrome is a rare autosomal recessive condition that causes short stature, unusual facial features and skeletal abnormalities with normal intelligence. Mutations in CUL7, OBSL1 and CCDC8 genes have been identified as pathogenic. GH treatment outcomes for 3M syndrome appear controversial. Use of human recombinant GH for the treatment of short stature has been trialled in previous studies with some suggesting dysregulation in GH/IGF1 axis while others report no...

Background: There are a variety of growth hormone delivery devices (GHDD) available to children requiring growth hormone (GH) therapy. Many paediatric endocrine nurses can offer patients and their families a choice of the products that are available, which can sometimes be overwhelming. However, factors such a licenced clinical indications have to be considered, as well as cost. This study explored nurses viewpoints on GHDD.Aim: The purpose of this proje...

Introduction: The pathogenesis of short stature and growth failure in Turner syndrome (TS) is multifactorial, and includes low birthweight, ovarian failure and skeletal dysplasia. Although abnormalities of the GH-IGF1 axis are implicated, patients are not GH-deficient (GHD) and consequently non-GHD doses of GH are utilised ie. 45–50 μg/kg per day or 9.8 mg/m2 per week. Although initially used in GHD patients, IGF1 titration is increasingly being used in al...

Introduction: In the UK, GH therapy is licensed for use in GH deficiency, Turner Syndrome, Small for Gestational Age (SGA), Prader Willi Syndrome (PWS), SHOX deletion and Chronic Renal Failure (CRF). Worldwide there are a number of additional indications. The aim was to review the use of GH prescriptions in relation to indications and to evaluate if there were similarities or differences between the licensed and unlicensed groups.Methods: All children st...

Introduction: PWS results from lack of expression of genes on the paternally inherited chromosome 15q11.2-q13. Clinical manifestations include hypotonia, altered body composition, reduced growth and a high incidence of obstructive sleep apnoea (OSA). Impaired GH secretion is documented in children with PWS. Recombinant growth hormone (rGH) use poses a therapeutic challenge due to potential life threatening adverse events, namely, the theoretical risk of increased lymphoid tiss...

In this report, we described pulmonary hypertension (PH) in two patients with growth hormone insensitivity (GHI) who are taking IGF-I(increlex) for along time.Case 1: 6-year-old male patient who has been followed for 4 years with the diagnosis of GHI. He was admitted to the hospital with the complaints of hypoglycemia and severe short stature (height SDS: −7.4). His physical examination, laboratory findings(GH>40 μg/dl, IGF-IA homozygous m...

Background: Accurate evaluation of growth is a key assessment of child health, in the UK use of a paper growth chart is currently standard practice. Our trust had a drive to become paper light thus there needed to be a way to store growth data electronically. Growth data is often incompletely documented. A previous review of children’s outpatient attendances at our hospital found that across medical, surgical and tertiary specialties only 33% of children had growth data d...

Introduction: PATRO children is an international, non-interventional, longitudinal study of the long-term safety of a biosimilar recombinant human growth hormone (Omnitrope, Sandoz). In particular, the study assesses the diabetogenic potential of Omnitrope and the risk of malignancies. The long-term efficacy is a secondary objective of the study. Here we present safety and efficacy data of UK patients recruited since 2008, following an interim analysis in May 2017.<p class...

Background: In the UK, Growth Hormone (GH) is indicated for treatment of children with short stature secondary to growth hormone deficiency (GHD), Prader Willi syndrome (PWS), Turner syndrome (TS), SHOX gene mutation, chronic renal insufficiency and born small for gestational age (SGA).Objectives: The aim was to assess the compliance of our local practice with the NICE guidance for GH therapy in children in addition to local guidance that TFTs and IGF-I ...

Introduction: GH has been proven to improve lean body mass and muscle strength. We report three cases where growth hormone replacement had a significant effect on gross motor function.Case series: A 15 month old boy was born at 33 weeks of gestation. During infancy, he was noted to have global developmental delay secondary to cerebral atrophy and isolated growth hormone deficiency. He was not able to pull himself to standing position but after commencing...

Introduction: Loss-of-function mutations in IGSF1 result in X-linked congenital central hypothyroidism (CeCH), occurring in isolation or in association with additional pituitary hormone deficits. Intrafamilial penetrance is highly variable and a minority of heterozygous females are also affected. We identified and characterized a novel IGSF1 mutation and investigated its associated phenotypes in a large Irish kindred.Methods/Design: A novel, hem...