ESPE Abstracts

Introduction: Topical corticosteroids are often used for the treatment of dermatological diseases. However, systemic adrenal insufficiency may result from their overuse. Patients at risk for development of adrenal insufficiency include especially young children and patients with damaged skin barriers.Case presentation: We report the case of a 11-year-old boy who was seen in our clinic for suspicion of Cushing syndrome. He was adressed by a dermatologist ...

Background: Prolactin (PRL) stimulates mammary glands and milk production in adult women. Also, high PRL level causes gonadal dysfunction by suppression of gonadotropin releasing hormone (GnRH) and luteinizing hormone (LH).Purpose: The aim of this study was to evaluate, if any, the relationship between PRL level and development of puberty in girls with precocious breast development.Methods: One hundred and ten girls with onset of b...

Background: Autoimmune thyroid diseases (AITD) are one of the most common organ-specific autoimmune disorders, of which Hashimoto’s thyroiditis (HT) and Graves’ disease (GD) are 2 of the most common clinical expressions. HT is characterized by hypothyroidism (hypoT) that results from the destruction of the thyroid by specific T cell-mediated cytotoxicity. In contrast, GD is characterized by hyperthyroidism (hyperT) induced by thyrotropin receptor-specific stimulatory...

Introduction: DAX1 (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1) plays an important role in developing the adrenal gland and testis during embryonic stage. On the other hand, overexpressed DAX1 causes 46,XY disorders of sex development (DSD), in which patients often have short stature, mental retardation, and telecanthus. Here we report a case of 46,Y,dup(X)(p21.2p22.2) DSD caused by overexpressed DAX1.Case ...

Background: Testicular tumours are an unusual cause of prepubertal gynecomastia. However, in boys with Peutz-Jeghers Syndrome (PJS), a rare autosomal dominant disorder caused by mutation in LKB1/STK11 gene, is mandatory to exclude this etiology, given the well-known association between PJS and Large-Cell Calcyfing Sertoli-Cell Tumor (LCCSCT). This mutation promotes aromatase overexpression in neoplastic Sertoli-cells, leading to gynecomastia.Case present...

Background: Peripheral precocious puberty (GnRH independed): precocious development of secondary sexual characteristics may also be caused by mechanisms that do not involve activation of pulsatile GnRH secretion. Familial male-limited precocious puberty, also known testotoxicosis is a rare dominant form of gonadotropin independent precocity caused by constitutively activating mutations of the human LH choriogonadotropin receptor (LHCGR). If do not treat with appropriate drugs ...

Background: Hypothyroidism is a common problem during childhood generally due to autoimmune thyroid disease. It can also occur in case of severe loss of serum proteins, as well as in the case presented. The most accepted practice in the treatment of hypothyroidism consists in the oral administration of LT4. Many conditions may affect the absorption of LT4.Case presentation: We report an original case of LT4 malabsorption ...

Introduct&idot;on: Thyroid cancers are rare malignancies in childhood and their incidence is between 1.5-3% among all childhood cancers. Papillary thyroid cancer (PTC) constitutes more than 90% of childhood thyroid cancers. Risk factors for thyroid cancer include; There are iodine deficiency, radiation exposure, radiotherapy to the head and neck region, and genetic predisposition. We will present an 8-year-old case who presented with a complaint of neck swelli...

Background: In Brazil, specially in the south, there is a high prevalence of p53 mutations – 1:300 compared to 1:5000-1:20000 incidence worldwide. (1) As a consequence, adrenocortical carcinoma as a cause of virilization in children is much more common in our practice.Clinical Case: M.P.O., a 32-month-old girl, was referred to our institution - Hospital de Clínicas de Porto Alegre - in May 2022 due to progre...

Background: In Brazil, specially in the south, there is a high prevalence of p53 mutations – 1:300 compared to 1:5000-1:20000 incidence worldwide. (1) As a consequence, adrenocortical carcinoma as a cause of virilization in children is much more common in our practice.Clinical Case: M.P.O., a 32-month-old girl, was referred to our institution - Hospital de Clínicas de Porto Alegre - in May 2022 due to progre...