hrp0086p1-p738 | Pituitary and Neuroendocrinology P1 | ESPE2016

Oxytocin Deficiency is Associated with Hyperphagia and Weight Gain in Hypothalamic and Common Obesity: A First-in-Humans Proof-of-Concept Study

Gan Hoong-Wei , Leeson Clare , Aitkenhead Helen , Spoudeas Helen , Martinez-Barbera Juan Pedro , Dattani Mehul

Background: Hypothalamic obesity (HyOb) is a rare form of treatment-resistant morbid obesity associated with congenital or acquired hypothalamic damage. Its pathophysiology has been attributed to hyperphagia and hyperinsulinaemia. The wider roles of oxytocin (OXT) in regulating appetite and weight have recently emerged in animal and human studies, but there is no human evidence that hypo-oxytocinaemia contributes to weight gain.Hypothesis: Hypo-oxytocina...

hrp0082fc11.6 | Pituitary | ESPE2014

Clinical and Neuroradiological Characteristics in Children and Adolescents with Septo-Optic Dysplasia, Multiple Pituitary Hormone Deficiencies and Optic Nerve Hypoplasia: Experience from a Single Tertiary Centre

Guemes Maria , Cerbone Manuela , Bagkeris Manolis , Gregory L C , Kasia Tessa , Dattani Mehul

Background: Septo-optic dysplasia (SOD) is an important cause of hypopituitarism, although less common than multiple pituitary hormone deficiency (MPHD). Children with optic nerve hypoplasia (ONH) are at risk of hormone and neurocognitive disturbances.Objective and Hypotheses: We describe clinical and neuroradiological findings of these three overlapping conditions, aiming to understand their pathophysiology.Method: Retrospective a...

hrp0082fc14.3 | Puberty | ESPE2014

Novel Genetic Variants in a Cohort of Paediatric and Adolescent Patients with Hypogonadotrophic Hypogonadism and Kallmann Syndrome

Gregory Louise , McCabe Mark , Bancalari Rodrigo , Tziaferi Vaya , Spoudeas Helen , Dattani Mehul

Background: Hypogonadotrophic hypogonadism (HH) is a complex developmental disorder characterized by a reduction in gonadotrophins (LH, FSH) released from the anterior pituitary. LH and FSH stimulate the ovaries or testes to release sex hormones that cause the onset of puberty, therefore delay in onset or complete absence of puberty is seen in the phenotype, often accompanied by short stature and genital abnormalities. When anosmia accompanies HH in the phenotype it is termed ...

hrp0082fclb2 | Late Breaking Abstracts | ESPE2014

Sonic Hedgehog is Required for Cell Specification of Rathke’s Pouch Progenitors During Normal Development and is Over-Expressed in Adamantinomatous Craniopharyngioma

Carreno Gabriela , Andoniadou Cynthia , Heywood Wendy , Mills Kevin , Dattani Mehul , Martinez-Barbera Juan Pedro

Background: Mouse studies have demonstrated the necessity of Sonic Hedgehog (SHH) for normal proliferation of Rathke’s pouch (RP) precursors. However, the possible function of SHH in pituitary cell specification remains to be assessed. Additionally, evidence suggests that SHH may be relevant in human adamantinomatous craniopharyngioma (ACP), a histologically benign, but clinically aggressive childhood tumour associated with high morbidity.Objective ...

hrp0082p2-d2-274 | Adrenals & HP Axis (1) | ESPE2014

Severe 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia and Congenital Hypothyroidism Due to Thyroglobulin Mutations in a Single Family: Two Distinct Genetic Disorders with Phenotypic Variability within a Single Family

Ponmani Caroline , Atterbury Abigail , Seniappan Senthil , Schoenmakers Nadia , Nicholas Adeline K , Chatterjee Krishna , Dattani Mehul

Background: 21-Hydroxylase deficiency due to mutations in CYP21A2 represents the commonest form of congenital adrenal hyperplasia (CAH). Dyshormonogenetic congenital hypothyroidism (CH) may be due to TPO, TG, DUOX2, DUOXA2, IYD, SLC5A5 and SLC26A4 mutations.Objective and hypotheses: We report a kindred with three siblings born to unrelated parents manifesting with two different forms...

hrp0084p2-303 | DSD | ESPE2015

Multiple Malformations Extending the Phenotypic Spectrum of Antley–Bixler Syndrome in a Patient with P450 Oxidoreductase Deficiency due to Two Novel Mutations of the POR Gene

Janchevska Aleksandra , Idkowiak Jan , Caredda Elisabeta , Hurst Jane , Dattani Mehul T , Arlt Wiebke , Spoudeas Helen A

Background: P450 oxidoreductase deficiency (PORD) is characterised by glucocorticoid and sex steroid deficiency and skeletal malformations, resembling Antley–Bixler syndrome (ABS, MIM 124015), a skeletal malformaton phenotype also present in patients with fibroblast growth factor receptor 2 mutations (FGFR2, MIM 176943). While genetic testing confirms both conditions, establishing the exact diagnosis on clinical grounds can be challenging.Objective ...

hrp0084p2-339 | Fat | ESPE2015

Hypothalamic Obesity, Hyperphagia, and Hyperinsulinaemia: Time for a Paradigm Shift in Assumptions?

Gan Hoong-Wei , Leeson Clare , Aitkenhead Helen , Spoudeas Helen , Dattani Mehul

Background: Hypothalamic obesity (HyOb) is a syndrome of inexorable, treatment-resistant obesity seen after congenital (e.g. septo-optic dysplasia (SOD)) or acquired (e.g. tumour-related) hypothalamic damage, often co-existing with hyperphagia, panhypopituitarism, autism, sleep, and temperature dysregulation. Its pathophysiology is poorly understood but hyperphagia and excess caloric intake may be less important than previously thought.Objective and hypo...

hrp0094p2-263 | Growth hormone and IGFs | ESPE2021

Pituitary gland volume measured by Magnetic Resonance Imaging as diagnostic predictor of persistent Childhood-onset growth hormone deficiency

Corredor-Andres Beatriz , Walton-Betancourth Sandra , Brain Caroline , Butler Gary , Hindmarsh Peter , Dattani Mehul ,

Introduction: Pituitary imaging is important for the evaluation of hypothalamo-pituitary axis defects in patients diagnosed with childhood-onset growth hormone deficiency (CO-GHD). Published evidence shows that there is a close relationship between structural changes in the pituitary gland and growth hormone deficiency.Aim: To evaluate the relationship between clinical, laboratory and magnetic resonance imaging of the pi...

hrp0097fc12.1 | Thyroid | ESPE2023

Graves’ disease – are we just delaying the inevitable?

Stevens Chloe , Langham Shirley , Amin Rakesh , T Dattani Mehul , E Brain Caroline , J Peters Catherine

Background: The incidence of Graves’ disease in patients aged <15 years is estimated at 0.9 per 100,000. Parental anxiety around definitive treatment, timing of this around schooling and clinician confidence in long-term medical treatment often results in prolonged medical management. This audit aimed to assess the rates of remission, timing of definitive treatment and long-term medical management in children managed for Graves’ at a UK tertiary...

hrp0097rfc13.6 | Pituitary, neuroendocrinology and puberty 2 | ESPE2023

Pituitary size on volumetric MRI predicts the severity of the neuroendocrine phenotype in populations at risk

Cerbone Manuela , D'Arco Felice , A Spoudeas Helen , Clark Chris , T Dattani Mehul

Background: Hypopituitarism in children is a complex condition and its hierarchical evolution at different developmental windows is unpredictable. Magnetic resonance imaging (MRI) is helpful but largely a subjective assessment of anomalies of the hypothalamo-pituitary (H-P) structures. We aimed to test the utility of a quantitative measure of pituitary and stalk in predicting neuroendocrine phenotypes.Patients and Methods:</stron...