hrp0098fc7.5 | GH and IGFs | ESPE2024

Use of overnight GH sampling in the diagnosis of growth disorders in children: neuroimaging findings and response to treatment

Mainieri Francesca , Cerbone Manuela , Caiulo Silvana , Gan Hoong-Wei , Tulsidas Dattani Mehul

Background: The diagnosis of GH deficiency is challenged by the suboptimal accuracy of GH stimulation tests. Overnight GH sampling (OGS) may be useful in the diagnosis of growth disorders.Objectives: To establish if 1) the reduced number of spontaneous overnight GH profile peaks (SOGPP) is associated with hypothalamo-pituitary (H-P) abnormalities on MRI, 2) these children benefit from GH treatment....

hrp0097fc13.2 | Pituitary, neuroendocrinology and puberty 2 | ESPE2023

Targeted gene panel screening in 144 congenital hypopituitarism patients, incorporating 135 known and novel genes implicated in hypopituitarism and/or hypothalamo-pituitary development.

Gregory Louise , Dattani Mehul

Congenital hypopituitarism (CH) is a highly variable disorder affecting 1:3000 - 1:4000 live births, and is characterized by deficiencies in one or more of the 7 pituitary hormones, with growth hormone (GH) being the most frequently-occurring deficiency. It may be associated with a range of syndromic features including visual impairment, midline brain abnormalities and facial clefting. The development of the pituitary gland is closely associated with that of the forebrain and ...

hrp0098rfc3.2 | Pituitary, Neuroendocrinology and Puberty 1 | ESPE2024

Results from a targeted hypopituitarism gene panel in patients with variable congenital hypopituitarism identifies variants in known and novel candidate genes.

Gregory Louise , Dattani Mehul

Background: Correct hypothalamo-pituitary (HP) formation is dependent on a complex network of numerous transcription factors and signalling molecules. Congenital hypopituitarism (CH) is a highly variable disorder involving deficiencies in one or more of the 7 pituitary hormones, and is often associated with syndromic features, spanning visual, midline brain, and facial abnormalities.Methods: We used a targeted gene panel...

hrp0098p1-107 | Adrenals and HPA Axis 2 | ESPE2024

Non-invasive biochemical monitoring for Congenital Adrenal Hyperplasia: use of urinary steroid metabolites and salivary 17α-Hydroxyprogesterone

J Tonge Joseph , Bacila Irina , Richard Lawrence Neil , Alvi Sabah , D Cheetham Timothy , Crowne Elizabeth , Das Urmi , Tulsidas Dattani Mehul , H Davies Justin , Gevers Evelien , Keevil Brian , E Krone Ruth , Patel Leena , Randell Tabitha , J Ryan Fiona , Thankamony Ajay , Faisal Ahmed S , Taylor Norman , P Krone Nils

Background: Monitoring disease control in congenital adrenal hyperplasia (CAH) by random serum 17a-Hydroxyprogesterone (17OHP) measurements is invasive and fails to capture total daily adrenal steroid synthesis. Urinary steroid analysis may provide a more suitable, non-invasive method of assessing treatment response in children with CAH, by estimating the total daily excretion of 17OHP metabolites.Method: Urine was colle...

hrp0098p1-273 | Pituitary, Neuroendocrinology and Puberty 4 | ESPE2024

Prospective assessment of hypothalamic dysfunction (HD) in congenital or tumorous diseases and impact on quality of life.

Cerbone Manuela , A Spoudeas Helen , T Dattani Mehul

Background/aim: HD is a life-threatening, but under-reported, disorder without accepted diagnostic criteria. We prospectively assessed the prevalence and severity of its 4 domains (sleep, appetite, temperature, thirst) in patients with congenital or acquired disorders, and their impact on quality of life (QoL).Methods: 66 patients (35M/31F) aged 12.4 ± 3.1 years, at risk of HD from tumours (n:36) or congenital maldeve...

hrp0095p1-412 | Adrenals and HPA Axis | ESPE2022

A single centre experience of aromatase inhibitors to limit bone age advancement in pre-pubertal boys with adrenal disorders causing androgen excess

Shaunak Meera , Zichichi Giulia , Peters Catherine , Brain Caroline , Dattani Mehul

Introduction: Anastrozole, an aromatase inhibitor, prevents the conversion of androgen to oestrogen, which is required for the adolescent growth spurt and the attainment of peak bone mass. Anastrozole may help minimise bone age (BA) advancement in conditions associated with adrenal androgen excess, such as congenital adrenal hyperplasia (CAH) and premature adrenarche.Objectives: 1. To describe baseline characteristics an...

hrp0095p1-353 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

A novel missense variant in the gene encoding Fatty Acid Synthase (FASN) associated with a unique multi-system disorder including hypopituitarism and hypoparathyroidism

Gregory Louise , Eaton Simon , Krywawych Stephen , Rahman Shamima , Dattani Mehul

Whole exome sequencing performed on a male patient with a unique complex phenotype revealed a novel de novo missense variant in FASN (c.6395C>T, p.A2132V), encoding Fatty Acid Synthase. The patient presented with panhypopituitarism (GH, TSH, LH, FSH and ACTH deficiencies), short stature, sensorineural deafness, hypoparathyroidism, retinal dystrophy, and developmental delay. He was 127 cm tall at the age of 21 and failed to respond to GH treatment [IGF-1 ge...

hrp0092fc11.1 | Pituitary, Neuroendocrinology and Puberty Session 2 | ESPE2019

Phenotypic Characterization of a Large Pediatric Cohort of Patients with Genetic Forms of Congenital Hypopituitarism

Cionna Cecilia , Cerbone Manuela , Gregory Louise C , Dattani Mehul T

Background: Genetic variants are identified in a small proportion (~10%) of patients with Congenital Hypopituitarism (CH), with variable associated phenotypes. We aimed to phenotypically characterise a large cohort of patients with genetically proven CH.Patients and methods: 1684 CH patients were screened (Sanger or whole exome sequencing) over a 20-year period (1998-2018) for mutations in genes regulating pitui...

hrp0089p2-p058 | Bone, Growth Plate & Mineral Metabolism P2 | ESPE2018

Validation of an Automated Method (BoneXpert) for the Determination of Bone Age in Paediatric Endocrinology – A Single Centre Experience

Calder Alistair , Dastamani Antonia , Spoudeas Helen , Dattani Mehul

Background: The BoneXpert method is an automated determination of bone age, which employs deformable models of each bone to locate the bones, and extracts the component of the bone appearance related to maturity in a holistic, statistical manner. The BoneXpert has been validated on normal children and children with diagnoses typical of pediatric endocrinology. Multiple clinical studies suggested that BoneXpert has adequate accuracy, precision, and efficiency to be clinically u...

hrp0089p2-p227 | GH & IGFs P2 | ESPE2018

Growth Pattern and Final Height Outcome in Children with Septo-optic Dysplasia and Isolated Hypopituitarism Treated with rhGH in a Single Centre

Cerbone Manuela , Guemes Maria , Improda Nicola , Dattani Mehul T

Aim: To identify the distinctive features of GH Deficiency (GHD) and to assess the response to GH treatment (rhGH) in children with Septo-Optic-dysplasia (SOD) and Multiple Pituitary Hormone Deficiencies (MPHD).Methods: Retrospective longitudinal single centre study of children with SOD (n:171) and MPHD (n:53). GHD was diagnosed in patients with growth failure by an insufficient GH response (≤6.7 μg/l) to provocation (Insulin Induced Hypoglyca...