ESPE Abstracts

We recently showed that Xq26.3 microduplications are associated with early childhood-onset gigantism, a condition we named X-linked acrogigantism (X-LAG). Patients with X-LAG present with mixed GH/PRL secreting pituitary macroadenomas and/or hyperplasia. The original smallest region of overlap for the microduplications included 4 coding genes, of which only one, an orphan G protein-coupled receptor named GPR101, was highly expressed in tumors. A single patient with GP...

Background: “SHORT syndrome” is a rare condition and mnemonic for Short stature, Hyperextensibility, Ocular depression, Rieger anomaly and Teething delay. The features most consistently observed in SHORT syndrome are mild intrauterine growth restriction; mild to moderate short stature; partial lipodystrophy; and a characteristic facial gestalt (small chin, triangular shaped face, prominent forehand, abnormal positioning large ears and thin wrinkled...

Background: Micronodular adrenal hyperplasia (MAH) is a rare disease.Objective: Describe the clinical, biological and genetic characteristics of micronodular adrenal hyperplasia (MAH) in children.Method: Retrospective study based on medical records (from the NIH and Bicêtre Hospital) of 47 pediatric patients (age <18 years at first signs of disease) with ACTH-independent Cushing syndrome (AICS) due to MAH proven histologic...

Background: Pituitary stalk interruption syndrome is a rare disorder characterized by an absent or ectopic posterior pituitary, anterior pituitary hypoplasia and an interrupted pituitary stalk. In some cases, a variety of additional congenital defects may be present. A genetic cause is identified in only around 5% of all cases.Case presentation: A 13-year-old male presented to the pediatric endocrinology clinic because o...

Introduction: Neurofibromatosis type 1 (NF1) is an autosomal dominant condition, caused by genetic mutation of NF1 gene in chromosome 17q11.2, with a worldwide incidence of approximately 1 in 3000 people. It is caused by de novo mutation, in about 50%. This is a multisystemic disease, presenting with café-au-lait spots, axillary freckling, skeletal dysplasia and neural crest tumors (benign neurofibromas usually). Autoimmune disease associated with NF1 c...

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 ...

Objective: This case report emphasizes the significance of early clinical examination in a pediatric endocrinology clinic for the diagnosis of Williams-Beuren Syndrome (WBS). WBS is a rare genetic disorder typically caused by a deletion in the chromosomal region 7q11.23. This deletion results in the loss of 25-27 genes, including the elastin gene. It is characterized by growth delay, mild intellectual disability, behavioral issues, cardiac diseases (mainly sup...

Background: DICER1 is an endoribonuclease that acts post-transcriptionally by processing mRNA into siRNA and microRNA, thus leading to mRNA downregulation. DICER1 syndrome is usually caused by germline variants and is characterized by a variety of benign or malignant tumors: pleuropulmonary blastoma, ovarian Sertoli-Leydig cell tumor, cystic nephroma, pituitary blastoma and multinodular goitre. Patients with germline aberrations in the DICER1 gene may carry additional...

Background: Congenital diabetes insipidus (DI) can be due to mutations in the arginine vasopressin (AVP) gene (familial neurohypophyseal DI), the AVP receptor type 2 (AVPR2) or aquaporin 2 (AQP2) genes (congenital nephrogenic DI, NDI). The clinical manifestation of congenital NDI, especially the response to AVP, can vary greatly depending on the functional effect of the AVPR2 mutation. Here we present two male siblings with NDI and partial response to ddAVP.<p class="abste...

Introduction: Carney Complex is a rare genetic disorder inherited in an autosomal dominant manner or may occur sporadically due to de novo mutations. It is characterized by the presence of cardiac myxomas, psammomatous melanotic schwannomas, skin pigmentation (blue nevi, lentigines) and multiple endocrine and non- endocrine tumors. It is caused by inactivating mutations or large deletions of the PRKAR1A gene. Management of the syndrome involves ongoing surveil...