ESPE Abstracts

Background: Type 2 diabetes (T2D) is an emerging disease in the pediatric population. The association between T2D and non-alcoholic fatty liver disease (NAFLD) has been described; this increases the risk of coronary heart disease (CHD). Recent evidence suggests that sizes and composition of HDL may be more important that HDL-C levels in predicting CHD. There is not data regarding the HDL subclasses distribution and composition in T2D youths with hepatic steatosis (HE).<p c...

Introduction: Peripheral precocious puberty is a non-gonadotropin-dependent early pubertal development. Exogenous intake of sex steroids, gonadal or adrenal pathologies, ectopic hCG-secreting lesions play a role in the etiology. Adrenal tumors is a rare cause of heterosexual precocious puberty.Case: An eight-year-old female patient was admitted with the complaints of genital hair growth and breast enlargement. The patien...

Three patients from two unrelated families in Malta; one consanguineous (siblings: Patient 1, male and Patient 2, female) and one non-consanguineous (Patient 3, male), manifested hypogonadotropic hypogonadism with delayed puberty, intellectual disability, scoliosis, and ataxia with cerebellar hypoplasia on MRI. GnRH tests revealed low peak LH and FSH concentrations in the patients: Patient 1; LH 2.3 IU/L, FSH 4.4 IU/L (14.3y), Patient 2; LH 3.6 IU/L, FSH 6.4 IU/L (12.5y), Pati...

Monogenic forms of diabetes have specific treatments that differ from the standard care provided for type 1 and type 2 diabetes, making the appropriate diagnosis essential. Misclassification of all diabetes types may occur and healthcare providers should be aware of this possibility. A systematic approach to subjects who are newly diagnosed with diabetes can assist classification of common forms of diabetes and identify those in whom molecular investigation would be advantageo...

Diseases of food restriction, such as anorexia and bulimia nervosa, are psychiatric conditions with the highest mortality. It is not known how these disorders emerge and what determine mortality. Individuals with these disorders frequently engage in compulsive exercise. States of food restriction are associated with elevated activity of hypothalamic neurons that produce AgRP, which cells are crucial for feeding and can promote stereotypic behaviors.Here,...

Background: Infantile Hypophosphatasia (HPP) is an inborn error of metabolism characterized by low serum alkaline phosphatase activity caused by loss-of-function mutations within the ALPL-gene encoding the tissue nonspecific isoenzyme of ALP (TNSALP). TNSALP controls skeletal and dental mineralization by hydrolyzing inorganic pyrophosphate, a potent inhibitor of bone mineralization. Patients develop substantial skeletal disease, failure to thrive, and sometime...

Anorexia Nervosa (AN) is an eating disorder characterized by severe hypophagia, high levels of physical activity, harsh weight loss and an intense fear of weight gain. It has the highest mortality rate among psychiatric illnesses and, due to the unknown underlying neurobiology, it is challenging to treat. Agouti-related protein (AgRP) neurons, which are localized in the arcuate nucleus in the hypothalamus, are both necessary and sufficient or feeding in adult animals. To uncov...

Background: Patients with vitD resistant rickets (VDRR) due to vitD receptor (VDR) mutations have extreme rickets along with alopesia, severe hypocalcemia, hypophosfatemia secondary to hyperparathroidism and elevated 1,25(OH)2vitD. Although there is no standard therapy for this patients, long-term or intermittanat i.v. or high dose oral calcium suplementations are recommended to correct the hypocalcemia and secondary hyperparathyroidism. ...

Background: Skeletal dysplasias comprise heterogeneous disorders often characterised by short stature with abnormalities of one or more of epiphysis, metaphysis or diaphysis. Over 200 types of skeletal dysplasias are identified, most of which are autosomal dominantly inherited. Actually, surgery has attempted to correct bone deformities but drug therapy for improving their severe short stature has been rarely attempted.Objective and hypotheses: Administr...

Background: The diagnosis, treatment, and management of growth disorders can have a substantial burden on patients and caregivers. Research was conducted with patient experts to understand challenges experienced by patients with growth disorders and their caregivers, and identify opportunities to improve care.Methods: A mixed-methods approach was used to obtain insights from patient experts between October 2022-January 2...