ESPE Abstracts

Introduction: Infants whose weight is > the 90th percentile for gestational age are classified as large for gestational age (LGA). Catch-up and catch-down growth can be defined as an increase or decrease in WAZ by > 0.67 SD respectively during the infantile period. It was suggested that in LGA rapid catch-up and/or no catch-down during infancy may be associated with the development of overweight (OW) and obesity (OB) during childhood.<p class="abstex...

Introduction: Management of CAH presents unique challenges distinct from other forms of adrenal insufficiency. Higher doses of glucocorticoids are required to suppress adrenal androgen synthesis, which can lead to overtreatment. Steroid-associated adverse events (SAAE) include hypertension, hyperglycemia, and diabetes, overweight and obesity and short stature.Aim: The goal of this study was to assess the occurrence of st...

In the history of biosynthetic GH, first prediction models on long term outcome of therapy were based on large multinational cohorts of various growth disorders and have concentrated on GH dose. In this study we analyzed the 1st year and final height (FH) data in a large single center cohort (center of expertise for rare growth disorders) and compared patient outcome and predictions in GHD and SGA. Our aim was to predict treatment outcome using simple previously suggested para...

Introduction: Congenital lipoid adrenal hyperplasia (CLAH) due to mutation in StAR gene, is the most severe form of congenital adrenal hyperplasia (CAH). Affected patient had intracellular cholesterol accumulation in the adrenal glands and tests that manifest clinically in adrenal insufficiency and sex reversal in XY male. Hormonal replacement therapy with physiological doses of glucocorticoids and mineralocorticoids, is the treatment option.<p class="abst...

Chromosomal microdeletions and microduplications have been associated with syndromic forms of intellectual disability (ID). The Xq28 duplication syndrome is an X-linked intellectual disability syndrome characterized by variable degrees of cognitive impairment (typically more severe in males), a wide spectrum of neurobehavioral abnormalities, and variable facial dysmorphic features. All males reported to date with the syndrome have a moderate-to-severe intellectual disability. ...

Impaired growth in children with Celiac Disease (CD) results mainly from nutritional deficits. Withdrawal of gluten from the diet is frequently associated with a marked improvement of linear growth. Some CD patients still have impaired growth despite good gluten elimination. GH secretion should be evaluated in CD patients showing no catch-up growth. We describe a case with CD and severe linear growth retardation due to possible IGF-1 resistance.Case Pres...

A 6-year-old girl presented with hypertrichosis all over the body. She was born at term with a birth weight of 2 kg. She had a paralytic squint with excess body hair since birth. She had delayed developmental milestones. She had HTSDS = -1.3, BMI SDS = 0.66. Her Mid-parental HtSDS = 0. She had no other signs of puberty. (breast Tanner 1). Investigations revealed DHEAS = 3.3 Umol/L, Estradiol = 43 pmol/l, FSH = 1.5 IU/L. LH = 0.5 IU/L, Testo: 0.63 nmol/l, IGF1 = 200 ug/l, FT4 =...

Methods: We performed an electronic search in PubMed, Google Scholar, and Web of Sciences to evaluate the global prevalence of growth hormone impairment and different endocrinopathies in SCD in all publications in the past 25 years.Results: Sixteen studies were included from 9 countries (USA, Canada, UK, Brazil, Jamaica, Egypt, Turkey, Saudi Arabia, and Bahrain) after 2000. The total number of patients was 1286. Most pat...

Background: Poor growth and under-nutrition are common in children with sickle cell disease (SCD). This review summarizes evidence of impaired linear growth and weight gain in children with SCD in different regions of the world in the past 25 years.Methods: A literature search was conducted on Medline/PUBMED, Google scholar, and SCOPUS, for studies published in English during the past 25 years, using the keywords sickle ...

Introduction: A recent review from 14 Mediterranean and Middle East countries (n=4477, mean age = 16.5 years) showed that the pooled prevalence of delayed puberty / hypogonadism in patients with BTM was 45.6%.Objectives: We reviewed the literature (Pubmed, Google scholar, Scopus, Research gate) (1995: 2022) on the consequences of hypogonadism and benefits of Sex Steroid therapy (HRT) in children and adolescents ...