hrp0094p1-8 | Adrenal A | ESPE2021

Long-term Cardiometabolic Morbidity In Young Adults With Classic 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia

Righi Beatrice , Ali Salma R , Bryce Jillian , Tomlinson Jeremy W , Bonfig Walter , Baronio Federico , Costa Eduardo C , Filho Guilherme Guaragna , T’Sjoen Guy , Cools Martine , Markosyan Renata , Bachega Tania A S S , Miranda Mirela C , Iotova Violeta , Falhammar Henrik , Ceccato Filippo , Stancampiano Marianna R , Russo Gianni , Vukovic Rade , Giordano Roberta , Mazen Inas , Guven Ayla , Darendeliler Feyza , Poyrazoglu Cukran , Vries Liat de , Ellaithi Mona , Daniel Eleni , Johnston Colin , Hunter Steven J , Carroll Paul V , Adam Safwaan , Perry Colin G , Kearney Tara , Abraham Prakash , Rees D Aled , Leese Graham P , Reisch Nicole , Stikkelbroeck Nike M M L , Auchus Richard J , Ross Richard J , Ahmed S Faisal ,

Background: Congenital adrenal hyperplasia (CAH) and long-term glucocorticoid treatment may be associated with an increased risk of developing cardiometabolic sequelae such as abnormal glucose homeostasis, hyperlipidaemia, hypertension, cardiovascular (CV) disease, obesity and osteoporosis.Objectives: To study the current practice amongst expert centres for assessing cardiometabolic outcomes in adult patients with 21-hyd...

hrp0089p3-p245 | Growth & Syndromes P3 | ESPE2018

Shox Haploinsufficiency in Short and Not Short Children: A Sigle Italian Cetre Data

Maggio Maria Cristina , Ragusa Saveria Sabrina , Miceli Roberto , Corsello Giovanni

SHOX haploinsufficiency (SHOX-D) is a cause of disharmonic short stature and a possible genetic cause of idiopathic short stature also in familial cases. We describe clinical, hormonal and genetic characteristics of patients with SHOX-D haploinsufficiency, followed and treated in the period 2014–2017, in a single Italian centre. The Rappold score was used to screen short children, to select those who needed a genetic analysis of SHOX gene by MLPA and sequencing. We select...

hrp0089p3-p246 | Growth & Syndromes P3 | ESPE2018

Microduplication of 3p25.3 and 4p23 Regions in a Patient with Multiple Congenital Anomalies, Congenital Hypothyroidism and Adrenogenital Syndrome

Barreca Massimo , Scavone Maria , Giancotti Laura , Colao Emma , Miniero Roberto

We report the case of a seven-year-old boy, unicogenised child, born at 33w, PN 1,540 Kg, (APGAR 8-10), hospitalized in neonatology unit for 30 days, invasive respiratory assistance was not necessary. At birth evidence of hypospadias with penile incurvation, oval fossa pervia, corpus callosum agenesis. Normal male karyotype. For positivity to screening for IC (in-situ normal thyroid), started L-Thyroxine therapy. When he was six the phenotype showed broad forehead, down-slant...

hrp0089p2-p334 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

Hypertension During GNRH Analogues Therapy in a 10-year-old Girl

Barreca Massimo , Carboni Elena , Scavone Maria , Giancotti Laura , Miniero Roberto

We report a case of a 10-year-old girl born at 41st week and spontaneous birth, in therapy with analogous GnRH for idiopathic central puberty. At 4 years bilateral thelarche, performed first and second level investigations and recives diagnosis of early idiopathic central puberty. Since then, therapy with triptorelin 3.75 mg i.m every 21 days was administrated. Regular checks, good compliance, and response to therapy. At 10 years old recurring episodes of headache and vertigo....

hrp0095p1-538 | Multisystem Endocrine Disorders | ESPE2022

Capillary Hyperglycemia in Infants - A manifestation of endocrinological urgency, or not.

de Assis Galan Camila , Isabel Scheidt Maria , Cristina Pedroso de Paula Leila , Vanessa de Lima Silva Elis , Simão Medeiros Leonardo , de Oliveira Poswar Fabiano

Capillary hyperglycemia in critically ill infants is a situation with numerous interfering factors, from acute illnesses to concomitant use of medications and may or may not be a manifestation of endocrinological urgency. Clinical case: Female patient, 2 months old, with failure to thrive, hepatomegaly without cholestasis, polyuria and compensated metabolic acidosis. On admission, capillary blood glucose levels above 200 mg/dL were measured even without concomitant use of cort...

hrp0092fc8.5 | Pituitary, Neuroendocrinology and Puberty Session 1 | ESPE2019

LGR4-Wnt β-Catenin Signalling Directs GnRH Network Development, with Defects Leading to Self-Limited Delayed Puberty

Mancini Alessandra , Howard Sasha R. , Cabrera Claudia P. , Barnes Michael R. , David Alessia , Wehkalampi Karoliina , Vassart Gilbert , Cariboni Anna , Garcia Marie Isabelle , Guasti Leonardo , Dunkel Leo

Background: The initiation of puberty is dependent upon an augmentation of gonadotropin-releasing hormone (GnRH) secretion from the hypothalamus. Development of the GnRH neuroendocrine network in embryonic life depends on coordinated migration of neurons from the vomeronasal organ in the nose to the forebrain. We have previously demonstrated that dysregulation in GnRH neuronal migration leads to delayed pubertal onset. Late puberty affects up to 2% of the ...

hrp0095p1-143 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Use of the 100,000 Genomes Project to identify the molecular basis of rare endocrine disorders within a tertiary paediatric endocrinology centre

M McGlacken-Byrne Sinead , Gregory Louise , Roberts Rowenna , Wakeling Emma , Katugampola Harshini , T Dattani Mehul

Introduction: The UK 100,000 Genomes Project (100KGP) recently investigated the genetic basis of rare disease using whole genome sequencing. The genetic aetiology of most rare paediatric endocrine disease remains unexplained.Methods: Children with genetically unexplained rare endocrine disease attending a subspecialist paediatric endocrinology clinic underwent whole genome sequencing as part of the 100KGP. Parental DNA w...

hrp0098fc14.3 | Fetal and Neonatal Endocrinology | ESPE2024

Reduction of Overnight Hypoglycemia in Congenital Hyperinsulinism: Results from the RZ358-606 (RIZE) Study

Dastamani Antonia , Hood Davelyn , O'Boyle Erin , Sidhu Jasmine , Roberts Brian

Background: Congenital hyperinsulinism (cHI) is characterized by recurrent, persistent hypoglycemia due to dysregulated insulin secretion from dysfunctional pancreatic beta cells. Hypoglycemia in combination with hypoketonemia can cause irreparable brain damage including lifelong neurologic impairments, seizures, and death. Avoidance of life-threatening hypoglycemia around-the-clock via vigilant glucose monitoring and frequent interventions, places immense psy...

hrp0098p1-253 | Growth and Syndromes 3 | ESPE2024

Establishing a Nurse-led Transition Clinic for Young People with Congenital Adrenal Hyperplasia (CAH): Quality Improvement Project

Thompson Angela , Roberts Alice , Clarkson Kerry , San Antonia Joanne , Kleczewski Sara , El Khairi Ranna , Gunn Harriet

Background: A robust and meaningful transition pathway helps to prepare young people (YP) for the move from children and YP's services to the adult setting. This can prevent YP from being lost to follow-up and improve long-term health outcomes. Healthcare “transition” describes the process of preparing, planning and moving YP from paediatric to adult services. This should be a gradual process, to enable the YP, and those involved in their care...

hrp0086pl4 | Genomic imprinting and evolution | ESPE2016

“Genomic Imprinting and Evolution”

Feil Robert

Genomic imprinting in mammals is controlled by DNA methylation. This essential epigenetic phenomenon mediates the mono-allelic expression of about hundred autosomal protein-coding genes and hundreds of regulatory non-coding RNAs, such that these become expressed from one of the two parental alleles only. Although the first imprinted genes were discovered less than thirty years ago, given their key roles in fetal development, homeostasis and brain functions, these exceptional g...