ESPE Abstracts

Introduction: Fanconi anemia (FA) is a very rare, complex and chronic genetic disorder. The diagnosis is most often made at pediatric age. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment for bone marrow failure. FA on its own as well as its treatment can affect the endocrine system. We report the case of a child followed for 12 years after HSCT for FA.Observation: A patient has been followed since the age of...

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...

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 ...

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. ...

Blood transfusion and iron chelation are conventional treatments for β-thalassemia (BTM). However, iron overload in parenchymal organs and endocrine glands still occurs in a good number of these patients.Objective: To evaluate the prevalence of iron-related complications (short stature, growth retardation, and growth hormone deficiency) in BTM.Methods: We performed an electronic search in PubM...

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 =...

Introduction: Accumulating evidence indicates various but significant effects of human breast milk IGF1 (HMIGF1) on infantile linear growth and weight gain.Objectives and Methods: We performed electronic literature systematic review using PubMed, Google Scholar, and Web of Sciences with the aim to provide an update on various effects of HMIGF1 on infantile and childhood growth. We reviewed 12 studies (n= 941 inf...