hrp0086s7.3 | Overgrowth disorders | ESPE2016

The Role of GPR101 in Human Growth

Stratakis Constantine , Faucz Fabio , Trivellin Giampaolo

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...

hrp0095p1-131 | Growth and Syndromes | ESPE2022

SHORT syndrome in a twelve-year old boy-case report

Priakou Syraina , Smyrnaki Pinelopi , Giatzakis Christoforos , Xekouki Paraskevi , Stratakis Constantine

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...

hrp0082p1-d3-14 | Adrenals & HP Axis (1) | ESPE2014

Clinical, Biological and Genetic Characteristics of 48 Pediatric Patients with Micronodular Adrenal Hyperplasia (MAH)

Rothenbuhler Anya , Gourgari Evgenia , Lodish Maya , Stratakis Constantine

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...

hrp0097p1-156 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

A novel ROBO1 gene variant in a patient with pituitary stalk interruption and multiple congenital anomalies

Nioti Olga , Smyrnaki Pinelopi , Giatzakis Christoforos , Xekouki Paraskevi , Stratakis Constantine

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...

hrp0089p1-p187 | Growth &amp; Syndromes P1 | ESPE2018

A Novel Deadly Variant in the TP53 Gene Causing Li-Fraumeni Syndrome. The Importance of Clinical Awareness and the Contribution of Molecular Diagnosis in Active Prevention Within Families with Multiple Tumor Incidents at a Young Age

Bothou Christina , Spyridis Georgios P , Papantonatos Dionysios A , Stratakis Constantine A , Papadimitriou Dimitrios T

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 ...

hrp0089rfc14.4 | Multisystem Endocrine Disorders | ESPE2018

A Novel Germline DICER1 Mutation in a Girl with Multinodular Goiter and Ovarian Sertoli-Leydig Cell Tumor

Settas Nikolaos , Michala Lina , Berthon Annabel , Faucz Fabio , Iliadi Alexandra , Gkika Anna , Dacou-Voutetakis Catherine , Stratakis Constantine , Voutetakis Antonis

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...

hrp0084p2-530 | Puberty | ESPE2015

Nephrogenic Diabetes Insipidus with Partial Response to Ddavp Caused by a Novel AVPR2 Splice Site Mutation

Schernthaner-Reiter Marie Helene , Adams David , Nilsson Ola , Trivellin Giampaolo , Ramnitz Mary Scott , Raygada Margarita , Golas Gretchen , Faucz Fabio R. , Dileepan Kavitha , Lodish Maya B. , Lee Paul R. , Markello Thomas C. , Tifft Cynthia J. , Gahl William A. , Stratakis Constantine A.

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...

hrp0097p2-193 | Adrenals and HPA Axis | ESPE2023

Patient with Carney complex syndrome due to PRKAR1A mutation.

Ioannis-Anargyros Vasilakis , Barouti Konstantina , Sertedaki Amalia , Giannopoulou Effrosyni , Markopoulou Panagiota , Zosi Paraskevi , Lykopoulou Evangelia , Christopoulos Nikolaos , N. Zografos George , Valari Manthoula , Stefanaki Kalliopi , A. Stratakis Constantine , Charmandari Evangelia , Kanaka- Gantenbein Christina

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...