hrp0098p1-262 | Growth and Syndromes 4 | ESPE2024

A novel comprehensive bioinformatic strategy could significantly enhance the molecular genetic diagnosis in growth restriction phenotypes

Ishida Miho , Vestito Letizia , V. Maharaj Avinaash , Cipriani Valentina , Smedley Damian , L. Storr Helen

Introduction: Growth restriction (GR) comprises ~50% of new patient referrals to paediatric endocrine clinics with <20% receiving a clear diagnosis. Enhanced genetic testing and stratification leading to tailored clinical care is a fundamental need. Whole-genome sequencing (WGS) was offered to patients recruited to the 100,000 Genomes Project (100 KGP), leading to new diagnoses in ~25% of all rare disease participants. The analysis pipeline uses disease-spe...

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 ...

hrp0089p2-p318 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

SOX3 Gene Duplication Associated with Midline CNS Malformations, Hypopituitarism and Neurodevelopmental Abnormalities: 5 Unrelated Cases

Chawla Garima , Nambisan Aparna K.R. , Arya Ved B. , Muhi-Iddin Nadia , Vamvakiti Katia , Ajzensztejn Michal , Hulse Tony , Buchanan Charles R. , Kapoor Ritika R.

Introduction: Duplications of SOX3 at Xq27.1 are known to be associated with a spectrum of midline defects, isolated/multiple pituitary hormone deficiencies and learning difficulties. We report 5 cases of SOX3 duplication with hypopituitarism and differing presentations. 1)Male neonate presented with poor feeding and prolonged jaundice. Investigations revealed central hypothyroidism and inadequate cortisol response to Synacthen. Appropriate hormone replacemen...

hrp0097p1-29 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

An adolescent boy with PLS3 mutation causing severe thoracic kypho-scoliosis

Kilci Fatih , Jones Jeremy , Gürpınar Gözde , Koçyiğit Esra , Çakır Özgür , Ceylaner Serdar , Alanay Yasemin , Mine Çizmecioğlu-Jones Filiz

Introduction: Mutations of the PLS3 gene (MIM 300910), encoding plastin 3, are an extremely rare cause of osteogenesis imperfecta (OI). It has an X-linked inheritance and is characterized by early-onset osteoporosis and kyphosis, which can cause compression fractures, especially in the thoracic vertebrae. Although there are reports showing that bisphosphonates are effective in improving the bone mineral density of patients with PLS3 variants,...

hrp0086rfc1.1 | Adrenals | ESPE2016

Tracing the Glucocorticoid Receptor Evolutionary Pedigree: Insights from a Comprehensive Phylogenetic Analysis of the Full NR Super-Family

Vlachakis Dimitrios , Nicolaides Nicolas C. , Papageorgiou Louis , Lamprokostopoulou Agaristi , Charmandari Evangelia

Background: The nuclear receptor (NR) family comprises three main subfamilies: the steroid hormones receptors, the thyroid/retinoid hormone receptors and the orphan receptors. Proteins within the NR family share common domain architecture. These closely related receptors and their cognate ligand compounds play a key role in homeostasis, reproduction, growth and development. Despite their biological significance, their evolution and diversification remains to be elucidated....

hrp0095p1-50 | Diabetes and Insulin | ESPE2022

An Evaluation of MiniMed™ 780G System Performance in Childhood: A Single Center Experience from Turkey

Eviz Elif , Gul Yesiltepe Mutlu R. , Can Ecem , Gokce Tugba , Muradoglu Serra , Hatun Sukru

Introduction: Automated insulin delivery systems provide significant improvement in the time in range(TIR) centered diabetes care. This study analyzes the real-word performance of Minimed 780G™system-Advanced Hybrid Closed Loop(AHCL) in children from a single center.Methods: Of the 93 children started to use AHCL between January 2021 and April 2022, 64 whose data could be accessed were included. 3,6,9 and 12 month-...

hrp0095p1-85 | Fat, Metabolism and Obesity | ESPE2022

The validation of Obesity interpreter, a mobile application-based tool, in evaluation of children and adolescents with obesity.

R Narayanan , Manoj Agrawal , Proteek Sen , Sayan Banerjee , Rishi Shukla , Anurag Bajpai

Background: The assessment of childhood obesity involves rational use of diagnostic tests in individuals with physiological causes while not missing pathologies. We have developed obesity interpreter, a mobile application that provides individualized guidance regarding the workup of children and adolescents.Aim: To validate the diagnostic accuracy of mobile application in the evaluation of children and adolescents with o...

hrp0095p1-149 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Validation of Puberty Interpreter, a mobile application-based evaluation of pubertal disorders

Banerjee Sayan , Mehta Sajili , Sen Proteek , Narayanan R , Agrawal Manoj , Shukla Rishi , Bajpai Anurag

Background: Assessment of pubertal disorders is challenging for the pediatricians causing unnecessary evaluation on one hand while missing pathology on the other. The paucity of pediatric endocrine centers further adds to the problem in resource poor settings. We have developed puberty interpreter, a mobile application that provides instantaneous guidance regarding diagnosis and management of children and adolescents with concern for pubertal disorders based o...

hrp0095p1-372 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Premature ovarian failure in a tall adolescent

Dağdeviren Çakır Aydilek , Çetinçelik Ümran , Uçar Ahmet

Introduction: Primary ovarian failure (POF) is traditionally defined as cessation of menstruation prior to 40 yr of age and diagnosis is confirmed by elevated serum FSH levels (often above 40 IU/L). It is known that 0.1% of the population is affected with POF before age 30 yr. Here, we report a case with POF, who presented wit tall stature due to structural abnormalities in X chromosome.Case Report: A 13.5 year-old-adole...

hrp0092rfc13.5 | Adrenals and HP Axis | ESPE2019

Genetics of Familial Glucocorticoid Deficiency Over the Decades: Phenotypic Variability and Associated Features

Smith CJ , Maharaj AV , Prasad R , Hughes CR , Clark AJL , Chan LF , Metherell LA

Background: Over the last 25 years more than 410 cases with suspected Familial Glucocorticoid Deficiency (FGD) have been referred to our centre for genetic testing. All cases had low or undetectable serum cortisol paired with an elevated plasma ACTH level. Our patient cohort comprises 352 families from 30 different nationalities and ranges from neonates to patients in their eighties. Mutations in the MC2R were first discovered as causative of FGD in 1...