Endocrine Abstracts

Introduction: RET proto-oncogene is situated on chromosome 10 and encodes a tyrosine kinase receptor. A germline mutation of RET leads to the appearance of MEN 2 syndrome or familial medullary thyroid carcinoma (MTC). One of the most common germline mutation occurs in codon 634. Pheochromocytoma penetrance for codon 634 mutation was demonstrated to increase with age up to 88% by age 77 years.Aim: To present two familial cases of RET mutation illustrating...

New possible pathogenic variants involved in pheochromocytomas and paragangliomasIntroduction: Pheochromocytomas and paragangliomas (PPGLs) are rare tumors of the chromaffin tissues that store and release catecholamines in excess. Most pheochromocytomas are sporadic, usually resulting in unilateral adrenal tumor, but 25–45% harbour a germline mutation.Aim: To describe new possible pathogenic variants (VUS) involved in PPGLs.</...

Introduction: Prader-Willi syndrome (PWS) is a complex genetic disorder characterised by hyperphagia with progressive obesity, dysmorphic features, hypotonia, mental retardation, behavioural abnormalities and endocrine dysfunctions as hypogonadism and growth hormone (GH) deficiency. PWS is the most commonly identified genetic cause of obesity.Methods: We reviewed five cases of confirmed PWS (three female and two male patients, aged between 8 and 32 years...

Introduction: Mucolipidoses II/III (ML) are rare autosomal recessive lysosomal storage disorders (incidence: 1/325 000 live births). They have overlapping clinical phenotypes with mucopolysaccharidosis disorders and include growth retardation, facial dysmorphism, skeletal abnormalities, respiratory and heart diseases, hepatosplenomegaly and abdominal hernias. There is no specific treatment and the management has been limited to supportive care.Case prese...

Background: Multiple endocrine neoplasms (MEN) are a rare hereditary syndrome, caused by an autosomal dominant mutation due to germline mutation in the rearranged during transfection (RET) proto-oncogene. According to the new WHO guidelines, MEN type 2 (formerly known as MEN 2A) is characterised by medullary thyroid cancer (MTC), paragangliomas, primary hyperparathyroidism (PHP) and cutaneous lichen amyloidosis.Objectives: To present the clinical and par...

Objective: The analysis of the copy number variation of CYP21A2 gene in a cohort of 21-hydroxylase deficiency (21-OHD) pediatric patients in a tertiary referral center from Romania.Methods: A total of 24 patients (21 female and 3 male, 7:1 female to male sex ratio) with previously biochemically and clinically diagnosed 21-OHD were enrolled in this study from October 2020 to October 2021. The age at the diagnosis was 4.6±4.8 years (mean&#177...

Medullary thyroid carcinoma (MTC) is a rare malignancy arising from parafollicular C cells of the thyroid gland, sometimes due to germline mutations in the RET protooncogene. Testicular cancer is the most common malignancy in men aged 15 - 40 years with survival rates improved by the introduction of cisplatin therapy in the late 1970s. Nonetheless, platinum-based chemotherapy was shown to increase the risk of a solid second cancer with substantially increased site-specific ris...

Introduction: Cornelia de Lange Syndrome (CDLS) a relatively uncommon genetic disorder diagnosed mainly by clinical features: distinctive facial features, developmental delay, hirsutism, mental retardation and structural abnormalities. Most cases are due to spontaneous mutations (NIPBL on chromosome 5, SMC1A on X chromosome, and SMC3 on chromosome 10). Short stature in CDLS is due to GH deficiency and resistance.Case report: We present a 9-year-old girl,...