ESPE Abstracts

Background: Aromatase deficiency is a rare autosomal recessive disorder produced by CYP19 gene mutations. 46XX affected patients presented with ambiguous genitalia leading to early identification. Most 46XY affected patients presented normal external genitalia and the condition often remains undiagnosed until late puberty. Information on pubertal development in affected boys is scarce since to the present date only two patients, younger than 4 years of age, without lo...

Background: During the 1st months of postnatal life serum luteinizing hormone (LH) levels in girls are lower than in boys. The mechanism of this sex difference is not known. It has been proposed that foetal or perinatal androgenic steroids have an effect on the control of LH secretion.Objective and hypotheses: To study the possible influence of high levels of androgens on serum gonadotropins during the 1st months of life in a cohort of nine 46,XX testicu...

Background: Juvenile idiopathic arthritis (JIA) is a heterogeneous group of diseases associated with an increase of inflammatory cytokines that may to influence child growth. However this is already known, to date auxological data published of JIA patients during biologic treatment are incomplete and very heterogeneous.Objective and hypotheses: To evaluate the auxological features in a selected cohort of patients with JIA treated with biologic drugs....

Background: Hereditary hypophosphatemic rickets (HHR) comprises a group of rare disorders characterized by renal phosphate wasting and impaired vitamin D metabolism. Numerous genetic defects can underlie this condition, with the X-linked dominant form (XLHR) being the most prevalent (1 in 20,000 individuals) resulting from inactivating variants in the PHEX gene.Aim: To characterize a large cohort of 99 argentini...

Background: Pelvic ultrasonography (PUS) of the uterus and ovaries allows the diagnosis of changes in sexual development. However, the reference values used in Spain originate from old studies conducted in other countries.Objective: To determine reference uterine and ovarian measurements by PUS and according to pubertal status and bone age in a Spanish population of healthy girls aged between 6 and 12 years.<p class=...

Background: Preterm infants born VLBW can display auxological impairment and long term cognitive disabilities. These outcomes are influenced by the condition of being small for gestational age (SGA), but also by the extra-uterine growth restriction (EUGR). Aim of the study was to detect the influence of gestational age(GA), perinatal growth trend and enteral nutrition during the hospitalization on cognitive and auxological outcomes at peri-pubertal age (PPA).<...

Aim of our study was to assess clinical characteristics and complementary studies, in patients who consulted the Endocrinology Department of our pediatric hospital, referred by pediatricians to discard precocious puberty.Methodology: it is a descriptive study based on review of medical records, with first consultation between 2010 and 2018. Criteria were developed to assign patients to one of six diagnostic categories based on age, growt...

Background: The central precocious puberty (CPP) diagnosis is usually based on clinical evaluation but in its soon phase this evaluation is difficult so laboratory confirmation is crucial.Objective and hypotheses: To evaluated the usefulness of the Leuprolide stimulation test as a diagnostic method of idiopathic CPP.Method: Sixty-one girls, aged 5–8 years, were evaluated retrospectivaly for premature breast development. Girls ...

Background: Lowe syndrome or oculocerebrorenal syndrome is a very rare condition (1:50 000) caused by mutations in the OCRL1 gene. It is an x-linked disorder characterized by congenital cataracts, renal tubular dysfunction, neurological defects (generalized hypotonia and mental retardation) and growth disorders. Growth pattern in Lowe syndrome has not been described in population-based studies so far.Objective: Descriptive multicenter international study...

Introduction: Differentiation of the external genitalia depends on serum androgen concentrations in the foetal life. The classic form of Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency (21OHD) is the most frequent cause of female genital ambiguity. It is an autosomal recessive disorder due to CYP21A2 mutations that are classified in groups based on their in vitro residual enzymatic activity. The phenotype usually is predicted by the less severe mutatio...