Endocrine Abstracts

Introduction: Nijmegen breakage syndrome(NBS) represents a rare autosomal recesive disorder, characterized by severe chromosomal instability. It is caused by mutations in the NBN gene, which product, nibrin, belongs to the hMre11/hRad50 protein complex, critical for processing DNA double-strand breaks during mitotic and meiotic recombination. The hallmarks of NBS are growth retardation, microcephaly, premature ovarian failure(POI) in females, immunodeficiency and predispositio...

Neurofibromatosis type 1 (NF1) is an inherited disorder characterized by formation of neurofibromas in the skin, brain and other parts of the body, in association with skin pigment changes. It is well known that this condition may be a risk factor for short stature with growth hormone deficiency (GHD) in children, due to suprasellar lesions. We present the case report of a 9-year-old boy admitted in our Service for short stature (-2DS). Physical examination revealed ‘caf&...

Introduction: The treatment with growth hormone (GH) plays an essential role in the Turner syndrome (TS) management. This study evaluated its efficacy in improving adult height (AH) and metabolic parameters.Material and methods: We retrospectively analysed auxological, biochemical, genetic and pharmacological parameters of 56 girls with confirmed TS. They were categorised according to their karyotype as X monosomy (62%), isochromosome (17%), X mosaicism ...

Introduction: Primary hyperparathyroidism (PHPT) is a common endocrine disorder often diagnosed in asymptomatic individuals on routine biochemical screening, which, if left untreated, can have devastating consequences. The main target organs of PTH are the skeletal system and the kidneys. Asymptomatic hypercalcaemia in young adults is uncommon, and patients who remain asymptomatic should be monitored for the development of complications that justify surgery.<p class="abste...

Congenital adrenal hyperplasia (CAH) describes a group of autosomal recessive disorders where the cortisol biosynthesis is impaired. There are two forms of CAH: the classic form, which includes the salt-wasting and the simple virilizing forms, and the nonclassic form. CAH due to 21-hydroxylase deficiency accounts for 95% of cases. Treatment of the classic form of CAH is targeted at replacing cortisol and aldosterone and effectively controlling excess androgen symptoms by using...

Cushing’s syndrome is a collection of signs and symptoms due to prolonged exposure to cortisol. It can be difficult to diagnose, particularly endogenous Cushing’s syndrome, because other conditions share the same signs and symptoms. Diagnosing Cushing’s syndrome can be a long and extensive process, it’s treatment may be also an important challenge. We present the case of a 49-year-old man, with a history of asthma and pulmonary cribriform adenocarcinoma (ra...

Giant cell tumors are rare, benign but aggressive and locally invasive tumors that usually affect the long bones in the limbs, typically presenting during the 3rd or 4th decade of life. Giant cell tumors of the skull are exceedingly rare, and less than 150 cases have been reported to date, of which less than 10 were described in the pediatric population. Here, we present the case of a 14 year old female that progressively developed severe headaches, blurr...

Introduction: Composite pheochromocytoma is a rare tumor composed histologically of pheochromocytoma and other neurogenic tumor components such as neuroblastoma, ganglioneuroblastoma, ganglioneuroma, peripheral nerve sheath tumor, or other types of neuroendocrine carcinoma. The frequency of composite adrenal tumors reportedly ranges from <3% of all adrenal gland neoplasms to 1–9% of pheochromocytomas. The clinicopathological diagnosis of composite pheochromocytoma is...

Introduction: ACTH-secreting pituitary adenomas occasionally present as aggressive pituitary tumors (APT), with invasion of surrounding structures, rapid growth, resistance to conventional therapies and multiple recurrences. In rare cases they can progress to pituitary carcinomas (PC) in several years, diagnosis being made upon the documentation of systemic or central nervous system (CNS) metastatic spread. Among pituitary carcinomas, the most common malignant subtypes are lac...

Introduction: Acromegaly is a rare, challenging disease that if not appropriately treated can lead to numerous complications. Some of the most frequent complications are cardiovascular (hypertension, secondary cardiomyopathy, arrhythmias, valvulopathies, heart failure) and metabolic (secondary diabetes, various alterations of the lipid metabolisms). Aim: The aim is to asses the impact of long-term acromegaly on the cardiovascular system and glucide and l...