ESPE Abstracts

Introduction: Primary empty sella syndrome (ES) is rare in children. Reports relating it with various endocrine manifestations have been published. Asymptomatic cases have also been reported, this questions the existence of causal relationship.Objective: To analyze causal relationship between primary ES and endocrine manifestations in 15 pediatric cases seen in our clinics, and suggest patients follow-up.Population and methods: Ret...

Background: Vitamin D plays a significant role in musculoskeletal health and various extraskeletal functions making the prevention and treatment of this vitamin (now considered as a hormone) of utmost importance. Literature on requirement/supplementation of vitamin D in asymptomatic children is scarce and this study was an attempt to see the effect of three different doses of cholecalciferol supplementation regimens in children with asymptomatic vitamin D deficiency.<p cla...

Background: Short stature has several causes ranging from complex hormonal deficiencies mostly related to pituitary gland genetics, to idiopathic and environmental causes such as maternal smoking in pregnancy, etc. Floating harbor syndrome is a rare genetic disorder characterized by short stature, delayed bone age, mild to moderate mental retardation, retarded speech development, and typical facial dysmorphic features. The syndrome is caused by heterozygous mutations in exon 3...

Background: A common cause of neurodevelopmental impairment in children is congenital hypothyroidism, but can be preventable with adequate screening and proper management. Preterm newborns are more likely to have thyroid dysfunction, with small for gestational age (SGA) being an additional risk factor. However, only few studies addressed the altered thyroid hormone concentrations in the first few weeks of life concluding that Thyroid-Stimulating Hormone (TSH) levels are higher...

Whole exome sequencing performed on a male patient with a unique complex phenotype revealed a novel de novo missense variant in FASN (c.6395C>T, p.A2132V), encoding Fatty Acid Synthase. The patient presented with panhypopituitarism (GH, TSH, LH, FSH and ACTH deficiencies), short stature, sensorineural deafness, hypoparathyroidism, retinal dystrophy, and developmental delay. He was 127 cm tall at the age of 21 and failed to respond to GH treatment [IGF-1 ge...

Background: Unlike term neonates, known to exhibit a physiological pseudohypoaldosteronism, very preterms (VPT) display a high sodium waste at birth with partial aldosterone deficiency. This context, combined with a low aldosterone/renin ratio is highly suggestive of a defect in mineralocorticoid biosynthesis.Objectives and hypotheses: To investigate mineralocorticoid and glucocorticoid pathways in newborns, and to clarify the impact of prematurity upon ...

Background: Several studies have described ethnic differences in HbA1c. Non-Caucasian patients have been found to have an higher HbA1c than the Caucasian ones. These differences have often been attributed to disparities in access to medical care or quality of the care.Objective and hypotheses: Differences in Hba1c among the ethnicities could be related not only to mean glycaemia. The aim of our study was to observe if, at the same level of mean glucose, ...

Background: Pseudohypoaldosteronism is a rare condition of renal or systemic resistance to aldosterone, divisible into separate clinical presentations, each with a distinct physiological and genetic basis. Transient pseudohypoaldosteronism is a secondary form, characterised by reduced glomerulofiltration rate. It has been described in infants with obstructive uropathy and urinary tract infections.Method: We present five cases, presenting in infancy with ...

Background: Polycystic ovary syndrome (PCOS) is a common reproductive endocrinopathy in women of childbearing age, affecting 5–10% women in this age group. Its suggestive cardinal features are hyperandrogenism, ovulatory dysfunction and/or polycystic ovary appearance. The diagnostic gold standard tool is pelvic ultrasound (PUS) which may be limited in overweight and obese adolescent girls.Objective and hypotheses: To evaluate the contribution of pel...

Background: Bone growth and mineralization during childhood are now recognized as important for bone health in adulthood, leading to renewed interest in identifying modifiable factors that impact bone mineral density (BMD) in childhood. Emerging data suggest that duration of breastfeeding may affect BMD in later childhood and adult life. However, such data are sparse and inconsistent.Objectives: This study examined the relationship betwe...