ESPE Abstracts

Introduction: Vitamin D may be considered as a hormone of prohormone of pleiotropic effects. Seasonal variability of insolation affects its synthesis in humans. In our latitude, vitamin D deficiency is widespread. In 2018, updated recommendations for vitamin D supplementation were published in Poland by Rusi&nacute;ska et al. In 2020, SARS-CoV-2 pandemic lockdown was introduced, with suggestions of protective anti-viral vitamin D role.<p class="ab...

Background: Thyrotoxic crisis is a rare, emergent complication of paediatric hyperthyroidism. A rare neurological manifestation of thyrotoxicosis is thyroid myopathy.Objective and hypotheses: We report the case of a female teenager who presented to the Emergency Department with thyrotoxic crisis and lower extremity weakness. Our objective is to discuss the course of thyrotoxic crisis and review potential rare neurological manifestations of thyrotoxicosis...

Objectives: To study the status of vitamin D (25-hydroxyvitamin D, active form) in diabetic an non-diabetic children in comparison with that of Moroccan children who have immigrated to Italy.Material and Methods: 25-hydroxyvitamin D levels were measured by chemiluminescence during the spring-summer season.Patients and Methods: Our cohort consisted of 25 subjects including 17 (9 Boy...

Background: Vitamin D status in children with isolated GHD has been analyzed in few studies with controversial results. The aim of the study was to assess vitamin D status in children with idiopathic GHD in North and Central Greece.Materials and methods: 128 children (M/F: 76/61, mean age 9.5 (S.D.±3.5 years) with isolated GHD were compared with 65 controls (M/F: 46/3, mean age 9.3 (S.D.±3.2 years). Children were d...

Background: 3β-hydroxysteroid dehydrogenase (3βHSD) deficiency is a rare form of congenital adrenal hyperplasia (CAH) and caused by loss of function mutations in the HSD3B2 gene. In classic form, affected patients have salt wasting early in infancy and may have ambiguous genitalia in both sexes. Herein we report a nonvirilized female patient with classic form of 3βHSD deficiency due to homozygous S218P mutation in the HSD3B2 gene and classic phenylketonuria....

Background: Vitamin D deficiency has been associated with chronic diseases, such as diabetes mellitus, obesity and autoimmune disease. However, There are only a few studies about the correlation between Vitamin D levels and precocious puberty in girls.Objective and hypotheses: In the previous study, vitamin D levels may be associated with precocious puberty. We also aimed to re-evaluate the relationship between serum 25-hydroxyvitamin D (25(OH)D) and pre...

Background: A 5 years and 10 months boy presented with pubic hair, recent penile growth, aggressive behaviour and rapid growth of height. Antenatal, perinatal, and developmental history was unremarkable. There was no family history of precocious puberty. His height and weight were 128 cm (2.24 S.D.) and 25 kg (1.55 S.D.) respectively. Vital signs were normal. He was Tanner 2 for pubic hair and his stretched penis length was 11 cm, right testis vol...

Background: We previously reported that children with an earlier adiposity rebound (AR), which is defined as the time at which the BMI starts to rise after infancy, have a higher BMI and a greater atherogenic metabolic status at age 12. In addition, it has been reported that higher levels of leptin at age 3 is associated with greater weight gain and adiposity by age 7. This finding suggests that leptin resistance may begin in early childhood, even before age 3.<p class="ab...

Background: Klinefelter syndrome, also known as 47, XXY, is a disorder characterized by tall stature, hypogonadism and mental retardation which is caused by nondisjunction events during meiosis and occurs in 500–1 000 live male birth. Here we report a patient with Klinefelter syndrome who presented with short stature, in contrast to common tall stature presentation and was diagnosed with GH deficiency.Case: A 7-year-old male presented with short sta...

Background: This is a case of an 18 year old phenotypic female of Bolivian origin with a 46,XY karyotype, uterus and menstruation with estrogen replacement. She was initially diagnosed with androgen insensitivity based on Leuprolide and HCG stimulation testing results. With menstruation, other etiologies are being considered.Case presentation: She presented with clitoromegaly and moderate posterior labial fusion (Prader III). Laboratory evaluation at 6&#...