ESPE Abstracts

Introduction: Skeletal dysplasias associated with short stature are caused by inherited cartilage/bone development defects and are often associated with disproportionate short stature. We will present a case of heterozygous NPR2 variants in a patient with ISS.Case Report: A 8 years 3 months aged girl with normal perinatal and neonatal periods came for short stature evaluation. The clinical exam showed: 115.5 cm (-2.45 SD...

Introduction: Short stature is a term applied to a child whose height is 2 standard deviations (SD) or more below the mean for children of that sex and chronologic age (and ideally of the same racial-ethnic group).Case report: We present a case of a girl aged 12 years, with normal perinatal and neonatal periods, GA=40 weeks, BW=2700 g, BL=49 cm, no medical history, no family history. The clinical exam revealed normal wei...

Introduction: Wolf-Hirschhorn syndrome (WHS) is a rare congenital disorder characterised by a "Greek-warrior-helmet" nasal appearance, growth delay, intellectual disability, and seizures. Limited studies exist on the growth evolution of WHS children, particularly regarding growth hormone (GH) therapy. We report a case of a 3-year-old boy with WHS and severe short stature.Case Report: A 3-year-old male child, se...

Hypocalcemia is a common metabolic problem and a recognized cause of seizures in neonates and infancy. Breastfed infants born to mothers who are vitamin D and or calcium deficient are at risk of developing vitamin D deficiency and hypocalcemia.Case report: We present two infants (two weeks old boy and a 9-month-old girl) with hypocalcemia caused by vitamin D deficiency admitted to our pediatric emergency department for seizures and tetan...

Aldosterone synthase deficiency (ASD) is a rare cause of hyponatremia, commonly found in infancy and if diagnosed early it has a good prognosis. ASD has been classified into 2 types, type 1, which is the rarest form, and type 2. Patients with ASD usually present with salt-wasting, insufficient release of potassium in the urine and failure to thrive in early infancy. This paper reports on one ASD case of a 6-week-old female who presented with a salt-wasting crisis, hyperkalemia...

Introduction: Hypothyroidism in children and adolescents presents unique challenges to clinicians due to its diverse clinical manifestations, including important weight gain and growth deceleration. Hashimoto's Thyroiditis is the leading cause of thyroid disorders in the paediatric population.Case report: A 9-year-old girl was referred to our endocrinology department for significant weight gain (15-20% over 6 months...

Background: Short stature is a common presentation in pediatric endocrinology and its etiologies encompass non-endocrine factors, endocrine disorders, and normal variations. Growth failure can serve as an alarmingly subtle indicator of underlying severe diseases, sometimes obfuscating multiple causative factors. Understanding the complexities involved in evaluating growth failure in the presence of chronic conditions is crucial for efficient management. This c...

Background: Jansen de Vries Syndrome is a rare autosomal dominant neurodevelopmental condition characterized by delayed psychomotor development, dysmorphic features, behavioural problems and short stature. First described in 2017, the disorder is attributed to pathogenic variants in Exons 5 and 6 of the of the protein phosphatase magnesium-dependent 1D (PPM1D) gene. The syndrome has been identified in 26 countries worldwide so far and it could be associated wi...

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a rare autosomal recessive genetic disease. Simple virilizing (SV) - CAH in boys is characterised by accelerated longitudinal growth, penile growth, pubic and axillary hair growth and aromatic body odor. More often these patients have advanced bone age (BA) which limits their available time to grow and leads to near adult height below the average of the normal population. Longstanding and...

Background: Congenital hypothyroidism (CH) is a treatable thyroid hormone deficiency that causes intellectual disabilities and growth deficiency if not detected and treated early.Material and Methods: We retrospectively analyzed the medical records of 22 patients, 13 (59%) females and 9 (41%) males, with positive CH screening at birth and confirmed by TSH & FT4 serum concentrations measurements, thyroid ultrasound an...