ESPE Abstracts

Introduction: Mitotane is an adrenal-specific agent available for treatment of residual adrenocortical carcinoma (ACC) after surgery, due to a specific, direct effect on adrenal cell mitochondria impairing adrenal steroidogenesis being associated with increased SHBG and modulates their disposal for target cell. We report a rare case of uterine bleeding during mitotane treatment in a girl with recurrent ACC.Case report: A 2.6 year-old girl was diagnosed w...

Background: Using ultrasound to examine the glandular breast tissue is a promising method for staging pubertal breast development. However, breast ultrasound for this purpose has not been explored in a large sample of healthy girls in different developmental stages, and normative data have been unavailable.Objective: To present novel pubertal references for breast ultrasound stages, Tanner breast (B) and pubic hair (PH) ...

Background: The fundamental challenge of developing a long-acting growth hormone (LAGH) is to create a more convenient growth hormone (GH) dosing profile while retaining the excellent safety, efficacy, and tolerability of daily GH. With GH receptors on virtually all cells, replacement therapy should achieve the same tissue distribution and effects of daily (and endogenous) GH while maintaining levels of GH and resulting IGF1 within the physiologic range....

Objective: To evaluate the endocrine function among Egyptian adolescent thalassemic patients.Patients and methods: 54 patients and 28 age-matched normal controls was included. Anthropometric measurements, clinical pubertal assessment were done for all patients. Oral glucose tolerance test (OGTT) was done to all patients and controls with measuring serum insulin level at 0.120 minutes. Insulin sensitivity and release index were calculated. 32 patients had...

Background and aim: Hypothyroidism could be accountable for cardiovascular diseases; hence, necessity of novel biomarkers being capable to predict patient’s status is indispensable. The aim of this study was to appraise alteration of plasma visfatin levels (as a newly discovered proteins) and its association with lipid profiles of hypothyroid patients.Materials and methods: In this cross-sectional, descriptive, and analytical study, 30 children bein...

Introduction: Pituitary stalk thickening (PST) is a rare condition in pediatric patients. As there are few studies published in pediatric population, the definition has been difficult to establish. The etiologies involved in PST can be divided in neoplastic, congenital, inflammatory/infectious or autoimmune diseases. In children the most frequent causes are neoplastic, followed by congenital lesions. The inflammatory/infectious and autoimmune diseases are rare...

Background: Childhood onset PTC has a more aggressive presentation but no overall increase in mortality compared to adults.Objective: To characterize a pediatric cohort with PTC at diagnosis using the American Thyroid Association (ATA) Initial Risk Stratification (IRS) and to evaluate the response to initial treatment until 3 years based on the modified ATA Dynamic Risk Stratification (DRS) for adults.<p class="abste...

Background and Aims: Coats plus syndrome (MIM # 612199) is a highly pleiotropic disorder particularly affecting brain, eye, bone and gastrointestinal tract. We describe the phenotype of a patient with severe growth failure where whole exome sequencing (WES) revealed compound heterozygosity for two mutations in the CTC1 gene.Patient and Methods: The patient, the fourth child of healthy non-consanguineous parents, was born...

Background: Hypovitaminosis D is common in the general population. Although many studies on 25-hydroxyvitamin D (25(OH)D) are available on systemic lupus erythematosus (SLE), little data is present in juvenile onset SLE (JSLE) patients.Objective and hypotheses: This study aimed to assess serum 25(OH)D levels in JSLE patients and to identify risk factors for vitamin D deficiency in this population.Method: Forty-five consecutive Cauc...

Background: Neurofibromatosis type 1 (NF1) caused by loss of function mutation in the NF1 gene; leads to the hyperactivation of RAS and its downstream mediators and contributes to tumour formation. The main manifestations of NF1 are café au lait macule, axillary and/or inguinal freckling. Neurofibroma plexiform is specific for NF1 and identified on the face and trunk. Urogenital presentation is infrequent in the penis. Identification of this lesion is essential because it...