ESPE Abstracts

Background: Adrenoleukodystrophy (ALD) is an X-linked disease characterized by impaired β-oxidation of very long-chain fatty acids (VLCFA) and in the most severe cases by inflammatory demyelination in the brain, adrenocortical insufficiency (AI), and death. Seven phenotypes were described, with a higher prevalence of the cerebral forms.Case report: We report two cases of ALD with different evolution, in February 2014. First case, an 11 years old boy...

Background: Jacobsen syndrome is a rare genetic condition caused by partial deletion of the long arm of chromosome 11 associated with delayed development, distinctive facial features, bleeding disorder, skeletal abnormalities and endocrine disorders.Case report: We report a rare case of Jacobsen syndrome in 4 year old boy addressed for short stature. Born at term (36 W) with low birth weight (1780 g) and delayed development, his height at presentation wa...

Background: Mixed gonadal dysgenesis (MGD) is a disorder of sex development associated with a numerical sex chromosome abnormality. Reported genital phenotypes range from female external genitalia or mild clitoromegaly through all stages of ambiguous genitalia to hypospadias or a normal penis, depending on the proportion of monosomic cells.Case presentation: 18 years old girl, with a history of hypertension, ventricular septal defect and obesity presente...

Introduction: Prader-Willi Syndrome (PWS) is a multisystemic genetic disorder caused by lack of expression of genes on the paternally inherited chromosome 15q11.2–q13, characterized by dysmorphic features, hypotonia, mental retardation, behavioral abnormalities, hyperphagia with progressive obesity and endocrine dysfunctions as hypogonadism and GH deficiency (GHD).Cases report: We present 3 cases: 2 females and 1 male with specific clinical features...

Have a real increase in precocious and advanced puberty with COVID19? Retrospective observational analytical study in which we compared the incidence of first consultations made by early thelarchies between the months of March to December 2019 and between March and December 2020 at the Pediatric Endocrinology(PE)consultation in our hospital, and the increase in diagnosis of precocious puberty (PP)and advanced puberty (PA) in the cases evaluated for this reason, with the aim of...

Background: Testicular adrenal rest tumours (TART) may develop in males with congenital adrenal hyperplasia (CAH), with a widely variable prevalence. Having no malignant features, there seems to be no need to remove them. However, these lesions may increase in size and number when exogenous hormone therapy is inadequate. Untreated, may lead to infertility and irreversible damage of the surrounding testicular tissue.Case report: We present two cases, diag...

During the pandemic, an increase in the cases of premature thelarche consultations was observed. Our group published a series in 2021 of 75 cases. This effect could have been caused by an increase in body fat mass in girls, suggesting a “trigger effect” in the activation of the gonadal axis, causing an increase in the number of cases of early puberty (SEEP Oviedo 2022). AMH has been correlated as a predictor of the moment of menarche (doi: 10.1515/jpem-2014-0521)</...

Pseudohypoparathyroidism (PHP) and related disorders lead to a wide spectrum of abnormal physical characteristics, neurocognitive and endocrine abnormalities. PHP (including all subtypes), pseudoPHP, acrodysostosis and progressive osseous heteroplasia refer to heterogeneous disorders characterized by physical findings, differently associated in each subtype, including short bones, short stature, stocky build, subcutaneous ectopic ossifications, as well as laboratory abnormalit...

Background: Down Syndrome (DS) patients have a higher incidence of primary hypothyroidism. We previously demonstrated that transgenic mice overexpressing Dyrk1A had developmental (larger primary thyroids at E15.5 stage of development), morphological (disorganized follicles) and functional (significant lower plasma T4) impairments similar to DS thyroidal impairments (Endocrinology 2015). DYRK1A, localized in the DS critical region on chromosome 21, is therefore the can...

Objective: To study the effect of orexin deficiency on metabolic and pubertal characteristics in narcoleptic children, we compared the metabolic and pubertal alterations between 15 children with narcolepsy with cataplexy (NC) and 15 control children matched for age, body mass index (BMI) z score.Method: Narcoleptic data were collected from the Reference Center for Narcolepsy and control common obese data from the department of pediatric endocrinology in ...