ESPE Abstracts

Background: Li-Fraumeni Syndrome (LFS) is an autosomal dominant hereditary cancer syndrome associated with germline pathogenic variants in in the TP53 gene and high risk of a broad range of early-onset malignancies. The 70-77% of LFS associated tumors are: breast cancer, soft-tissue sarcoma, brain tumor, osteosarcoma and adrenocortical carcinoma. However, ovarian, pancreatic and gastrointestinal track tumors are also LFS-related. The patients with LFS are at risk for a second ...

Introduction: Although the majority of Growth Hormone insensitivity syndrome (GHIS) cases are classical, the spectrum of clinical phenotypes has expanded to include ‘atypical’ GHIS subjects with milder phenotypes due to very rare heterozygous GHR mutations with dominant negative effects.Case description: A 13 year old pubertal boy was presented with short stature (−1.7SD) and delayed bone age (11 6/12). Final adult height was &#8...

Background: Hormonal replacement in boys with congenital Hypogonadotrophic Hypogonadism (HH) as well as hormonal repair of bilateral cryptorchidism and micropenis remain a challenge in pediatric endocrinology.Methods: In the «REMAP» study ISRCTN13007297 eight neonates and infants, all with bilateral cryptorchidism in intra-abdominal position and micropenis (≤2 cm), with absence of neonatal male-mini puberty were treated for 3 months with ...

Background: Hormonal replacement in boys with congenital HH remains a challenge. Micropenis has been traditionally successfully treated with 3 monthly injections of testosterone enanthate before the age of 2, but when bilateral cryptorchidism coincides, surgery is required. But even after a successful surgery, the hypoplastic testes with the deficient proliferation of immature Sertoli cells, due mainly to the lack of the male mini-puberty in the neonatal period as well as the ...

Background: Childhood obesity predisposes to metabolic disorders. Low grade inflammation of adipose tissue (AT) associated with macrophage infiltration may lead to metabolic complications. Two macrophage activation states M1 (pro-inflammatory) and M2 (anti-inflammatory) exist in AT with surface markers CD40 (M1), CD206 (M2) and CD163 (M2). M1 polarization correlates with metabolic complications.Objective and hypotheses: To study the expression of CD40, C...

Background: Morbid childhood obesity predisposes to metabolic disorders such as diabetes type 2. In mice, heat-producing ‘brown-like’ (beige) adipocytes can suppress weight gain and metabolic disease through the action of uncoupling protein 1 (UCP1) localized in the mitochondria.Objective and hypotheses: To study the expression of UCP1 in the adipose tissue of lean&obese children and adolescents.Method: Paraffin embed...

Background: Adipose tissue (AT) in obesity is characterized by low grade inflammation. The apoptosis inhibitor of macrophages (AIM; also called CD5L) is incorporated into adipocytes leading to increased lipolysis. Excess AIM-dependent lipolysis induces adipose tissue macrophage recruitment. M1 (proinflammatory) macrophage infiltration, with surface marker CD40, correlates with metabolic complications.Objective and hypotheses: To study serum levels and AT...

Background: PHA1 is a rare inherited disease characterized by resistance to aldosterone action and distinguished in two forms: the autosomal dominant renal form caused by mutations of the NR3C2 gene (MR) and the autosomal recessive systemic form caused by mutations of the subunit genes SCNN1A, SCNN1B, SCNN1G of the epithelial sodium channel (ENaC). The classic phenotype of the autosomal recessive form of PHA1 is usually severe, lifelong, and expressed with mu...

Background: Osteoprotegerin (OPG) is a cytokine of the tumour necrosis factor receptor family, expressed in various cells types of the body including osteoblasts and endothelial cells. It acts as a soluble decoy receptor of RANK ligand preventing stimulation of osteoclastogenesis. In adults, subclinical hypothyroidism (SH) has been associated with cardiovascular complications. Furthermore several studies have linked OPG levels to increased cardiovascular risk.<p class="abs...

Background: The precision of adult height prediction by bone age determination in children with idiopathic growth hormone deficiency (IGHD) is unknown.Patients and Methods: The near adult height (NAH) of patients with IGHD with prepubertal onset of growth hormone treatment (GH) in the KIGS database was compared to adult height prediction based on bone ages (BA) >7 years using the Bailey Pinneau (BP) or Tanner-Whiteho...