hrp0094p1-50 | Sex Endocrinology and Gonads A | ESPE2021

Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency

McGlacken-Byrne Sinead M , Torres Ignacio Del Valle , Stabej Polona Le Quesne , Belutti Laura , Ocaka Louise , Ishida Miho , Suntharalingham Jenifer P , Genomics UCL , Discovery GOSgene , Resource Human Developmental Biology , Dattani Mehul T , Kelberman Dan , Lagos Carlos F , Livera Gabriel , Conway Gerard S , Achermann John C ,

Background: Primary ovarian insufficiency (POI) is genetically mediated in up to 30% of cases. Many genes associated with POI have roles in early ovary developmental processes, including meiosis.Objectives: We investigated the genetic mechanism underlying early-onset POI in three young women presenting with absent puberty: two sisters from a consanguineous pedigree and a third unrelated proband.<st...

hrp0092p2-83 | Diabetes and Insulin | ESPE2019

17q12 Deletion and a Family History of Diabetes

Kasongo Laura , Nicolescu Ramona

Introduction: 17q12 deletion syndrome is associated with an enlarging phenotype, the most frequent clinical findings being renal and genitourinary malformations, diabetes mellitus (╬▓-cell developmental defect) and exocrine pancreas deficiency, variable cognitive impairment with dysmorphic features.Diabetes, known as MODY 5 (maturity-onset diabetes of the young), is an autosomal dominant monogenic type and the most commonly identi...

hrp0092p3-257 | Thyroid | ESPE2019

Bilateral Hip Pain as First Symptomatic Expression of Severe Primary Hypothyroidism

Kasongo Laura , Nicolescu Ramona

Introduction: Legg-Calvé-Perthes disease is an idiopathic osteonecrosis of the femoral head with uncoupling of bone resorption and formation, presenting as unilateral involvement in most children. Symmetric involvement suggests other conditions: skeletal dysplasia, osteonecrotic entities including hypothyroidism, Gaucher's disease, glycogen storage defects, sickle cell anemia.Case presentation: We present a case...

hrp0086p2-p583 | Perinatal Endocrinology P2 | ESPE2016

Neonatal Failure to Thrive and Dyselectrolytemia – Not Always a Congenital Adrenal Hyperplasia

Kasongo Laura , Nicolescu Ramona

Background: Pseudohypoaldosteronism (PHA) is a rare entity inducing, in case of late or missed diagnosis, life-threatening clinical and biochemical complications.Objective and hypotheses: To report a case of 4-week-old boy with failure to thrive, dehydration, hyponatremia, hyperkalemia, metabolic acidosis. The first diagnosis was congenital adrenal hyperplasia, but in the evolution, the right diagnosis of PHA was retained.Method: T...

hrp0086p1-p822 | Syndromes: Mechanisms and Management P1 | ESPE2016

Neonatal Haematological Complication in Noonan Syndrome – Future Concerns about Growth Hormone Therapy

Kasongo Laura , Nicolescu Ramona

Background: Noonan syndrome (NS) is an autosomal-dominant inherited condition defined clinically by a short stature, specific phenotype, congenital heart disease, bleeding and hematologic abnormalities (particularly leukaemia). There is also a genetic heterogeneity, with all mutations involved in the RAS/mitogen-activated protein (MAP) kinase pathway and with PTPN11 gene mutations counting for almost 50% of patients.Objective and hypotheses: To describe ...

hrp0084p3-1133 | Puberty | ESPE2015

Clinical Characteristics of Girls with Atypical Precocious Puberty

Mawer Laura , Willemsen Ruben

Background: Precocious puberty, pubertal development in girls before 8 years, has considerable biological, psychosocial, and long-term health implications. It is classically ascribed to the premature activation of the hypothalamic-pituitary┬ľgonadal axis, and hence an LH response >5 U/l in the LHRH test. Whilst this group of patients is well understood, there is a paucity of literature characterising patients who show pubertal development not driven by LH, atypical pre...

hrp0082fc10.4 | Programming &amp; Early Endocrinology | ESPE2014

Influence of Newborn and Maternal Factors on Neonatal Body Composition

Breij Laura , Hokken-Koelega Anita

Background: There is increasing evidence that body composition in early life has both immediate and long-term influence on health. Air-displacement plethysmography creates the opportunity to study the effect of prenatal and early postnatal factors on neonatal body composition. Prenatal maternal factors, such as pre-pregnancy BMI and gestational weight gain, might also influence neonatal body composition.Objective and Hypotheses: We hypothesized that newb...

hrp0092mte7 | Management of Graves Disease | ESPE2019

Management of Graves' Disease

Cheetham Tim , Lane Laura , Wood Claire

Managing Graves' disease (GD) should be simple. Stop the immune system from targeting the TSH receptor and the disease is cured. Unfortunately this is not yet feasible in most young people and GD is not a trivial condition for those affected. There are significant advantages and disadvantages of all current treatments with no easy way forwards for many and the family's decisions will reflect their perceptions of medical, radiation and surgical risk. The fact that two o...

hrp0092p1-70 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Congenital Hypothyroidism – Precise Diagnosis with Dual Imaging

Kasongo Laura , Rausin Leon , Nicolescu Ramona

Introduction: Primary congenital hypothyroidism (PCH), defined as thyroid hormone deficiency, can be viewed as an anatomical, clinical, biochemical and radiological spectrum.Its etiology includes thyroid dysgenesis (85%) with defects in thyroid gland development and thyroid dyshormonogenesis (15%) with inborn error of thyroxine synthesis or release.There is growing evidence that precise characterization of ...

hrp0092p3-194 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Coincidental Central Precocious Puberty and Wilms Tumor

Kasongo Laura , Forget Patricia , Nicolescu Ramona

Introduction: Wilms tumor is the most frequent pediatric renal malignancy and its usual presentation is an abdominal mass or hematuria. Unusual presentations have also been reported, such as paraneoplastic syndromes (acquired von Willebrand disease, sudden death due to pulmonary embolism and Cushing syndrome). These conditions can precede, occur concomitantly or present in a later phase of tumor development. Precocious puberty, as paraneoplastic endocrine synd...