hrp0084p2-278 | Diabetes | ESPE2015

Neonatal Diabetes – Experience from a Single Centre in Sri Lanka

Atapattu Navoda , Vithanage Vasundara , de Silva Kirikankanange Shamya Harshini , de Silva Daham Haresha , Jayathilaka Mala Mangalika , Hattersley Andrew T , Ellard Sian , Flanagan Sarah E , Houghton J A L , Hussain Khalid

Background: Neonatal diabetes (NDM) is a rare form of monogenic diabetes which usually presents before 6 months of age. Both transient and permanent NDM have been described.Objective: To report the molecular genetics and clinical characteristics of patients with NDM from a single centre in Sri Lanka.Method: Retrospective analysis of clinical and molecular genetic data from patients referred to Lady Ridgeway Hospital Endocrinology u...

hrp0084p2-523 | Puberty | ESPE2015

Copy Number Variants in Patients with Congenital Hypopituitarism Associated with Complex Phenotypes

Correa Fernanda A , Franca Marcela M , Canton Ana P M , Otto Aline P , Costalonga Everlayny F , Brito Vinicius N , Carvalho Luciani R , Costa Silvia , Arnhold Ivo J P , Jorge Alexander A L , Rosenberg Carla , Mendonca Berenice B

Background: The aetiology of congenital hypopituitarism (CH) is unknown in the majority of patients. In our cohort of 200 cases, it was possible to establish the genetic cause in only 13 patients (6.5%). Copy number variants (CNVs) have been implicated as the cause of genetic syndromes with previously unknown aetiology.Objective: To study the presence of CNVs and its relevance in patients with CH of unknown cause associated with complex phenotypes.<p...

hrp0094ha1 | A Global Natural History Study of Fibrodysplasia Ossificans Progressiva (FOP): 36-Month Outcomes in Participants Aged &lt;25 Years | ESPE2021

A Global Natural History Study of Fibrodysplasia Ossificans Progressiva (FOP): 36-Month Outcomes in Participants Aged <25 Years

Pignolo Robert J. , Baujat Genevieve , Brown Matthew A. , De Cunto Carmen L. , Hsiao Edward C. , Keen Richard , Al Mukaddam Mona , Le Quan Sang Kim-Hanh , Marino Rose , Houchard Aude , Kaplan Frederick S. ,

Background: FOP is an ultra-rare, severely disabling genetic disorder characterised by progressive heterotopic ossification (HO) following flare-ups. The median age at diagnosis is 5 years, and patients are managed by multiple specialties. No study to date has provided a longitudinal evaluation of FOP. Final data are presented for participants, aged <25 years, enrolled in the first 36-month, prospective, global natural history study of FOP (NCT02322255).</...

hrp0094p1-173 | Growth Hormone and IGFs B | ESPE2021

Growth hormone receptor 6Ω pseudoexon activation: a novel cause of severe growth hormone insensitivity

Cottrell Emily , Maharaj Avinaash , Williams Jack , Chatterjee Sumana , Cirillo Grazia , Giudice Emanuele Miraglia del , Festa Adalgisa , Palumbo Stefania , Capalbo Donatella , Salerno Mariacarolina , Pignata Claudio , Savage Martin O. , Schilbach Katharina , Bidlingmaier Martin , Hwa Vivian , Metherell Louise A. , Grandone Anna , Storr Helen L. ,

Context: Severe forms of growth hormone insensitivity (GHI) are characterised by extreme short stature, dysmorphism and metabolic anomalies. They are classically caused by homozygous or compound heterozygous mutations of the growth hormone receptor gene (GHR). Genetic analysis traditionally focuses on the exonic regions of genes that encode proteins rather than the intervening non-coding sequences. These seldom explored non-coding regions may harbour ...

hrp0094p2-26 | Adrenals and HPA Axis | ESPE2021

Testicular adrenal rest tumour in children with classical congenital adrenal hyperplasia: A case series.

Peng Cheng Hooi , Sze Lyn Wong Jeanne , Suffian Hassim Mohamad , Arliena Mat Amin Noor , Selveindran Nalini M , Guang Gan Cheng , Teik Teoh Sze , Anand L Alexis , Hua Hong Janet Yeow ,

Introduction: Testicular adrenal rest tumour (TART) is a complication in males with congenital adrenal hyperplasia (CAH). However, the prevalence, risk factors and treatment in children are not clear.Objective: 1) To identify the incidence of TART and risk factors in patients with classical CAH in our centre 2) To study the clinical characteristics, hormonal profile, treatment interventions and outcome of patients with T...

hrp0094p2-193 | Fat, metabolism and obesity | ESPE2021

Early decline in Sertoli cell function during puberty in overweight and obese boys: a cross-sectional study

Rerat Solene , Amsellem-Jager Jessica , L’hours Marie-Clemence , Bouhours-Nouet Natacha , Donzeau Aurelie , Rouleau Stephanie , Levaillant Lucie , Emeriau Fabienne , Moal Valerie , Boux de Casson Florence , Lahlou Najiba , Coutant Regis ,

Context: Alterations in semen characteristics and Sertoli and Leydig cell function have been described in obese male adults. Whether these alterations occur before adulthood has not been fully evaluated.Objective and Design: Cross sectional study from 2010 to 2018 describing gonadic function in overweight-obese (ow/ob) boys through childhood and adolescence.Setting: Monocentric study in the Pediatric Endocrinology ...

hrp0094p2-200 | Fat, metabolism and obesity | ESPE2021

Impact of weight loss on gonadic function in overweight and obese boys

Rerat Solene , Coutant Regis , Beaumesnil Marion , L’hours Marie-clemence , Bouhours-Nouet Natacha , Donzeau Aurelie , Rouleau Stephanie , Levaillant Lucie , Emeriau Fabienne , Moal Valerie , Boux de casson Florence , Amsellem-Jager Jessica ,

Introduction: In obese boys, alteration of Sertoli and Leydig cell functions have been described, but potential reversibility of these alterations after weight loss during childhood has not been fully evaluated.Objective: Evaluate the impact of weight loss on gonadic function in obese boys.Setting: Monocentric study in the Pediatric Endocrinology Unit of Angers University Hospital ant its follow-up...

hrp0094p2-216 | Fat, metabolism and obesity | ESPE2021

The effects of dextroamphetamine treatment in children with hypothalamic obesity

Samaan J , Welling MS , de Groot CJ , Abawi O , Burghard M , Kleinendorst L , van der Voorn B , van Haelst MM , Oude Ophuis B , Kamp GA , Rotteveel J , van Schouten-Meeteren AYN , van den Akker ELT , van Santen HM ,

Introduction: Children with hypothalamic dysfunction, e.g. due to a genetic or acquired cause such as suprasellar tumours, often suffer from hyperphagia and/or decreased resting energy expenditure (REE). This process induces uncontrollable weight gain, resulting in severe hypothalamic obesity (HO). No effective treatment is available yet for HO. Amphetamines are psychostimulants that are known for their appetite reducing and REE stimulating side effects. Here,...

hrp0095p1-5 | Adrenals and HPA Axis | ESPE2022

Urinary steroid metabolite ratios: sex- and age-dependent changes and use for the differential diagnosis of inborn steroidogenesis disorders

S. Baranowski Elizabeth , Guran Tulay , C. Gilligan Lorna , Shaheen Fozia , Utari Agustini , M.H. Faradz Sultana , E. Van Herwaarden Antonius , L. Claahsen - van der Grinten Hedi , E. Taylor Angela , H.L. Shackleton Cedric , Arlt Wiebke

Background: Biochemical ratios of precursor-to-product urinary steroid metabolites have been proposed as surrogate markers of steroidogenic enzyme activity to aid the differential diagnosis of inborn disorders of steroidogenesis. Using ratios rather than total amounts facilitates analysis of single spot urine samples, more convenient than 24-h urine collections for young children. Previous studies examining the utility of these biochemical ratios have been lim...

hrp0095p1-385 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

A Rare and Treatable Cause of Prepubertal Gynecomastia: Large Cell Calcifying Sertoli Cell Tumor

Kağızmanlı Akın , Besci Özge , Yüksek Acinikli Kübra , Şeker Gül , Yaşar Elif , Öztürk Yeşim , Demir Korcan , Böber Ece , Abacı Gözde Ayhan

Introduction: Gynecomastia is common in boys at early-mid puberty, while prepubertal gynecomastia is a rare condition. Sertoli cell tumors (SCTs) account for 2% of prepubertal testicular tumors. Most of the SCTs in prepubertal boys, which are generally bilateral and diffuse, are in the content of Peutz-Jeghers Syndrome (PJS) or other familial syndromes (Carney complex). Large cell calcifying Sertoli cell tumor (LCCSCT) is a variant of SCT and is seen in PJS. I...