hrp0089p3-p307 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

Premature Adrenarche and Pseudohypoparathyroidism – Mechanistically Linked or Coincidence?

Odone Jessica , Yadlapalli Kumar , Burren Christine

Aims: To describe a case of premature adrenarche with pseudohypoparathyroidism, an as yet unreported combination.Case: An otherwise well 8 year old girl presented to a Paediatric Endocrine Clinic with early pubic hair development suggestive of Premature Adrenarche. Blood tests revealed hypocalcaemia, elevated phosphate and highly elevated parathyroid hormone (PTH) level, giving a biochemical diagnosis of pseudohypoparathyroidism. She had normal stature (...

hrp0086p1-p119 | Bone & Mineral Metabolism P1 | ESPE2016

Novel p.Asn628Ser Heterozygous Mutation in FGFR1 is Associated with Hartsfield Syndrome and Tumoral Calcinosis

Prasad Rathi , Brewer Carole , Burren Christine

Background: Our patient, a male infant has bilateral cleft lip and palate, bilateral split hand and foot, semilobar holoprosencephaly and specific pituitary defects (cranial diabetes insipidus, gonadotrophin deficiency). He developed tumoral calcinosis at 16 months.Objective and hypotheses: Our patient’s phenotype is suggestive of Hartsfield syndrome. We hypothesise that he harbours a FGFR1 mutation given recently published findings associa...

hrp0086p1-p120 | Bone & Mineral Metabolism P1 | ESPE2016

Practicalities of Bisphosphonate use in UK Paediatric Tertiary Centres

Price Victoria , Ramakrishnan Renuka , Burren Christine , Dharmaraj Poonam

Background: On reviewing practical aspects of intravenous bisphosphonate use in our tertiary Children’s Hospital, we noted disparity between departments who prescribed these drugs. This included issues pertinent to patient safety and hospital management, e.g. the need for overnight admission for the first infusion, blood tests and monitoring for adverse events (AEs). We therefore decided to survey the practices of other tertiary Paediatric Endocrinology Centres.<p cla...

hrp0086p2-p653 | Growth P2 | ESPE2016

Improving the ‘Gold Standard’: The Insulin Tolerance Test Revisited

Daskas Nikolaos , Barton John , Burren Christine , Crowne Elizabeth

Background: The optimal method to assess GH status remains controversial. GH provocation tests are used and the Insulin Tolerance Test (ITT) is regarded as the ‘gold standard’ to diagnose GH deficiency (GHD). The original selection of 0, 20, 30, 60, 90 and 120 min time points is still used in many protocols worldwide, but variations have evolved.Objective and hypotheses: Comparing standard ITT (StdITT) to a revised (RevITT) protocol.<p clas...

hrp0092p2-152 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Congenital Hyperinsulinism due to Compound Heterozygous Mutations in ABCC8 Fully Responsive to Diazoxide Therapy

Taylor-Miller Tashunka , Deshpande Ruma , Burren Christine P , Munyard Paul , Giri Dinesh

Background: Congenital Hyperinsulinism (CHI), a condition characterised by dysregulation of insulin secretion from the pancreatic beta cells, remains one of the most common causes of hyperinsulinemic, hypoketotic hypoglycaemia in the newborn period. Mutations in ABCC8 and KCNJ11 constitute the majority of genetic forms of CHI. Biallelic inactivating mutations (homozygous or compound heterozygous) in ABCC8 and KCNJ11 are know...

hrp0092p2-253 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Complexities of Diagnosis in 17-Beta-Hydroxysteroid Dehydrogenase Deficiency and Implementation of Next Generation Sequencing in Guiding Management Decisions – Case Series of Six Patients

Taylor-Miller Tashunka , Barton John S , Burren Christine P , Woodward Mark , Alderson Julie , Crowne Elizabeth C

17-beta-hydroxysteroid dehydrogenase (17-beta-HSD3) deficiency is an autosomal recessive 46XY disorder of sex development (DSD), which results in impaired gonadal androstenedione conversion to testosterone. The phenotype ranges from female to ambiguous genitalia, with wolffian-duct structures and testes. HCG stimulation tests assess testosterone biosynthesis, though biochemical results in confirmed 17-beta-HSD3 deficiency may overlap with gonadal dysgenesis making diagnosis ch...

hrp0089rfc2.4 | Bone, Growth Plate &amp; Mineral Metabolism 1 | ESPE2018

Novel Severe Skeletal Dysplasia with Under-Mineralisation Associated with Reduced In Utero Calcium Transport and TRPV6 Compound Heterozygous Variants

Bowen Philippa , Caswell Richard , Castle Bruce , Welch C Ross , Hilliard Tom , Smithson Sarah , Ellard Sian , Burren Christine

Background: Fetal skeletal bone development and mineralisation depends on placental calcium transfer. Although Parathyroid Hormone (PTH) pathway has some contribution, TRPV6 (the sixth member of the Transient Receptor Potential Vanilloid family) is a recently identified receptor involved in calcium transport and is predominantly expressed in the placenta. It has not previously been linked with skeletal development disorders.Case: This infant had...

hrp0095p1-306 | Growth and Syndromes | ESPE2022

Bone age in children with achondroplasia.

Savarirayan Ravi , Maria De Bergua Josep , Arundel Paul , Pierre Salles Jean , Leiva-Gea Antonio , Irving Melita , Saraff Vrinda , McDevitt Helen , Nicolino Marc , Cormier-Daire Valerie , Kannu Peter , Skae Mars , B. Bober Michael , Phillips III John , Burren Christine , Harmatz Paul , Saal Howard , Hoover-Fong Julie , Muslimova Elena , Cho Terry , Weng Richard , Rogoff Daniela

Background: Bone age (BA) is commonly used in pediatrics to define skeletal maturity for medical and non-medical purposes. Normal range is represented by 2 standard deviations (SDs) above and below the mean. A BA greater than &pm;2 SDs from the chronological age (CA) is considered abnormal. BA in achondroplasia (ACH) has not been fully characterized; calculation is challenging given difficulties in comparing x-rays with standard radiographs if using the Greuli...

hrp0094p1-130 | Growth A | ESPE2021

Study design and baseline characteristics of children enrolled in PROPEL: A prospective clinical assessment study in children with achondroplasia (ACH)

Savarirayan Ravi , Bergua Josep Maria De , Arundel Paul , Salles Jean Pierre , Leiva Antonio , Saraff Vrinda , McDevitt Helen , Santos-Simarro Fernando , Cormier-Daire Valerie , Kannu Peter , Skae Mars , Bober Michael B. , III John Phillips , Burren Christine , Harmatz Paul , Saal Howard , Weng Richard , Muslimova Elena , Cho Terry , Rogoff Daniela , Irving Melita ,

Background: ACH is the most common short-limbed skeletal dysplasia, affecting between 1 in 15,000 to 1 in 30,000 live births. Children and adults with ACH have disproportionate short stature, with a final height of approx. 131 cm for males and 124 cm for females. People with ACH are prone to significant co-morbidities, including obstructive sleep apnea, chronic otitis media with conductive hearing loss, spinal stenosis, and a propensity towards obesity. In som...

hrp0097rfc4.6 | Growth and syndromes (to include Turner syndrome) | ESPE2023

Results from the PROPEL 2 dose-finding study: oral infigratinib leads to significant increases in height velocity with good tolerability in children with achondroplasia

Savarirayan Ravi , Maria De Bergua Josep , Arundel Paul , Pierre Salles Jean , Saraff Vrinda , Delgado Borja , Leiva-Gea Antonio , McDevitt Helen , Nicolino Marc , Rossi Massimiliano , Salcedo Maria , Cormier-Daire Valerie , Skae Mars , Kannu Peter , B. Bober Michael , Phillips III John , Saal Howard , Harmatz Paul , Burren Christine , Candler Toby , Cho Terry , Muslimova Elena , Weng Richard , Raj Supriya , Hoover-Fong Julie , Irving Melita , Rogoff Daniela

Background: Achondroplasia (ACH), the most common short-limbed skeletal dysplasia, is characterized by impaired endochondral ossification resulting from gain-of-function pathogenic variants in the fibroblast growth factor receptor 3 (FGFR3) gene, a negative regulator of endochondral bone growth. People with ACH are at risk for several significant co-morbidities, including brainstem compression due to foramen magnum stenosis, sleep-disordered breathing, chronic...