ESPE Abstracts

Background: Triple A (Allgrove syndrome) is a rare, autosomal recessive disorder characterized by the alacrimia, achalasia, and adrenal insufficiency triad. Alacrimia starts in early infancy, while achalasia and adrenal insufficiency appear subsequently during childhood or adulthood. We are presenting an infant with very early and simultaneous clinical manifestations of triple A syndrome.Case presentation: An 11-month-ol...

Introduction: Children with congenital adrenal hyperplasia (CAH) and adrenal insufficiency (AI) rely on lifelong hormone replacement with hydrocortisone (HC). Alkindi® is the first HC licensed for children from birth to 18 years with AI, available in small doses of 0.5, 1, 2 and 5mg required for the needs of neonates, infants and children.Objectives: Primary: long-term safety of Alkindi®; Secondary: long-term d...

Background: Nonclassical congenital adrenal hyperplasia (NCCAH) due to mild 21-hydroxylase deficiency is caused by mutations of the CYP21A2 gene located on chromosome 6p21.3.Objective and hypotheses: To determine cut-off for basal and stimulated 17-hydroxyprogesterone (17-OHP) levels, to evaluate CYP21A2 gene mutations frequency among Croatian NCCAH patients, to determine correlation between 17-OHP levels and genotype and to evaluate co...

Introduction: Small for gestational age (SGA) is a common condition affecting around 10% of all newborns, and it is associated with an increased risk of short stature and other health problems later in life. Growth hormone deficiency (GHD) is a well-known cause of growth failure in children, and it is estimated to affect approximately 1 in 4.000-10.000 children. However, the prevalence of GHD in SGA children with short stature is not well established. Early de...

Introduction: Since 1960, enlarged polycystic ovaries associated with hypothyroidism, delayed bone age and precocious puberty are recognized as Van Wyk and Grumbach syndrome. Although it is rare entity, it should be considered in differential diagnosis of the enlarged polycystic ovaries.Case: An eleven-year-old girl was presented with sudden onset of abdominal pain and vomiting. A large mass with multiple cysts was seen ...

Context: Alkindi® (Hydrocortisone Granules, Diurnal Ltd, UK), was recently licensed for oral administration to children with adrenal insufficiency (AI) from birth to 18 years. Previously, children received compounded hydrocortisone to achieve age appropriate dosing, however almost 25% of batches were out of specification for mass and content uniformity and clinically evident under- and over-dosing was reported.Objectives: Primary: long-te...

Context: Children with congenital adrenal hyperplasia (CAH) and adrenal insufficiency (AI) require hydrocortisone replacement from birth. Continuous monitoring of therapy during growth is necessary. Until now, children were dependent on off label use with divided hydrocortisone tablets or pharmacy compounded capsules. A licensed paediatric formulation that allows accurate dosing down to 0.5mg is now available.Objective: ...

The majority of patients with Variations of Sex Development (VSD) lack a genetic diagnosis. Patients that are born with atypical chromosomal, gonadal, or phenotypical sex, present a wide spectrum of phenotypes that are often associated with ambiguous genitalia, infertility as well as increased susceptibility to testicular or ovarian cancer. Many different genetic causes of VSD have been reported [2], but for more than 50% [3] of all VSD patients, the molecular cause of their c...

Human sex development relies on differentiation of the gonads, in which Sertoli and granulosa cells play a key role for men and women respectively. Many variations of sex development (VSD) are due to alteration of these two cell types. The study of the mechanisms underlying these conditions is crucial for optimal clinical management of VSDs, as for more than 50% [1] of all VSD patients, the molecular cause of their condition remains unknown. The collection of primary cells is ...

Background: Disorders/Differences of Sex Development (DSD) is diagnosed in approximately one out of 4'500 newborns. Children born with DSD present with a very diverse phenotype and they and their families face considerable challenges, potentially including surgical intervention and gender assignment, as well as associated complications such as infertility and predisposition to gonadal tumors. Due to the lack of knowledge concerning the complete gene and pr...