Endocrine Abstracts

Introduction: Multiple Endocrine Neoplasia Syndrome 2B (MEN 2B) is a very rare genetic disorder which affects the thyroid and the adrenal glands, the development of mucosal neuromas and the general appearance of the patient’s body. Therefore, we can encounter Medullary Thyroid Carcinomas (MTC), adrenal sympathetic paragangliomas (or Pheochromocytomas) and habitus Marfanoid. The disease represents a challenge for every clinician, especially if it occurs in a child.<p c...

Introduction: Progressive osseous heteroplasia (POH) is a rare genetic condition of progressive heterotopic ossification (HO), from skin and subcutaneous tissues into deep skeletal muscles. Most cases are caused by heterozygous inactivating mutations of GNAS gene. Related disorders are Albright hereditary osteodystrophy (AHO), pseudohypoparathyroidism (PHP), and primary osteoma cutis. Distinction from other GNAS-based conditions is made by the extension of HO from superficial ...

Introduction: Carney complex is a rare autosomal dominant genetic disorder which develops secondary to mutation in the PRKAR1A gene located in the 17q22-24 region. It is commonly characterised by the association between spotty skin pigmentation, cardiac myxoma and secretory endocrine tumors.Case presentation: A 15.8-year-old boy known with PRKAR1A mutation diagnosed based on his personal history – cutaneous papiloma of the neck resected at the age o...

Neurofibromatosis 1 (NF1) is a rare disease determined by mutations in the RAS-MAPK pathway. It can cause precocious or delayed puberty.Case 1: A 11 years 9 months old girl known with Neurofibromatosis – Noonan Syndrome (NF-NS) was admitted for severe growth deficit (-5.14 SDS). She had over 20 café au lait spots, hypertelorism, pterigium colli, B1 P1. At 18 months she had had surgery for pulmonary stenosis and after that a left ventricular tum...

Background: Low-serum concentrations of 25(OH)-vitamin D are associated with insulin resistance in adults. Recent in vitro studies have suggested that vitamin D may play a role in the regulation of adiponectin, leptin and resistin; since all these adipokines are related to insulin sensitivity modulation, they might represent a link between vitamin D status and insulin resistance.Aim: To identify possible correlations between 25(OH)-vitamin D ser...

IntroductionOncocytic neoplasms arising in adrenal tissue are extremely rare with nearly 150 cases being reported in literature. They are mostly nonfunctioning benign tumors, incidentally discovered, but 20% of them demonstrate elements of malignancy and up to 30% appear to affect hormone production.Case reportA 35 years old female with primary amenorrhea, diagnosed with Congenital Adrenal Hyperplasia due to ...

Introduction: Pituitary Stalk Interruption Syndrome (PSIS) is a congenital developmental anomaly affecting the pituitary gland. Characterized by a triad of features including a thin or absent pituitary stalk, adenohypophysis hypoplasia, and ectopic neurohypophysis on MRI, PSIS can lead to isolated or combined pituitary hormone deficiency. Symptoms may manifest at various life stages, with 70% of cases identified in childhood due to growth retardation. Notably, some patients ex...

Objective: To evaluate the comparative effects of different glucocorticoid treatments on growth and sexual maturation in patients with congenital adrenal hyperplasia.Patients and methods: We conducted a retrospective observational cohort study in 78 patients (60 girls, 18 boys) diagnosed with congenital adrenal hyperplasia (CAH), followed-up for a period of 5 years. The majority had 21-hydroxylase deficiency (75 patients), 2 had 11-β hydroxylase def...

Introduction: Pituitary adenomas (PAs) are rare in childhood and the transition period, can result from AIP/MEN1 mutations, are difficult to manage and severely impair quality-of-life.Aim: To describe the clinical and genetic characteristics of patients with PA onset before 21 years old.Patients and methods: Retrospective study (1980–2015). Clinical, imaging and hormonal data, AIP/MEN1 sequencing.<p class...

Introduction: Beckwith-Wiedemann Syndrome (BWS), a genetic imprinting disorder linked to 11p15, showcases overgrowth traits, including macrosomia, macroglossia, and abdominal wall defects. Characterized by specific genotype-phenotype correlations and recognized as a cancer predisposition syndrome (nephroblastoma, hepatoblastoma, neuroblastoma and adrenocortical carcinoma), our four case reports provide insights into varied clinical presentations.Case rep...