Endocrine Abstracts

Introduction: Short stature is a common reason for pediatric endocrine evaluation and it can have a variety of causes, including constitutional, genetic short stature, dysmorphic syndromes, chronic illnesses and also endocrine disorders. Growth hormone deficiency accounts for 8% of the cases and it can be isolated or associated with other pituitary hormones deficiencies, congenital or acquired, such as in central nervous system tumors.Case report: A 15-y...

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...

Craniopharyngiomas are rare, benign tumors, typically found in childhood or early adulthood, that can cause a wide range of symptoms such as visual impairment, headaches, nausea and endocrine disturbances. Ewing sarcoma, on the other hand, is a rare and aggressive tumor that arise from primitive neuroectodermal cells and represents about 10% of all pediatric osseous primary tumors. We present the case of a 14-year-old patient who was admitted to our clinic in March 2022 for ob...

Craniopharyngiomas are rare solid or mixed solid-cystic tumours. Although benign histologically, these tumours frequently shorten life and should be considered low-grade malignancies.We present the case of a 12-year-old boy diagnosed in 2008, at age 5, with a suprasellar tumour of 22/21/20 mm with mixed solid and cystic areas. The tumour was operated twice by left transfrontal approach in 2008 and right transfrontal approach in 2009. The pathology exam r...

Subacute thyroiditis (SAT) is a self-limited inflammatory disease of presumed viral etiology, characterized by pain and thriphasic functional thyroid evolution. We report the case of an 54-years-old woman hospitalized in 02.2008 at the Gastroenterology Department for fever, diahreea, significant weight loss (5 kg in one month), with the suspicion of Crohn’s disease (CD). Two weeks before she presented a subfebrile episode with bilateral jugular lymphadenopathy, dysphagia,...

Leopard syndrome (LS) is a rare autosomal dominant disease of variable penetrance and clinical expression. LEOPARD is an acronym for the major features of the disorder: lentigines, ECG conduction abnormalities, Ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth, and deafness. LS is caused by different mutations in PTPN11 gene (protein-tyrosine phosphatase, nonreceptor-type, 11), allelic with Noonan syndrome (NS). The diagnosis is established if...

Prader-Willi is a complex genetic syndrome with characteristic phenotype, obesity, hyperphagia, and endocrine hypothalamic dysfunctions. We present particular features of a case with confirmed Prader Willi syndrome (PWS).Case report: EP, only child of a young non-consanguine couple, was born in 1994 at 34 weeks of amenorrhoea, with a low Apgar score (7) and a weight of 2200 g. She presented important hypotonia in the first 6 weeks of life, needing gavage...

IntroductionSilent corticotroph adenoma represent an uncommon subtype of nonfunctioning adenoma, immunoreactive for ACTH, without clinical or biochemical evidence of hypercortisolism and unclear pathogenesis. Usually, they present with local mass effect (visual deterioration being the most common) and endocrine dysfunctions. They carry a more aggressive behavior, particularly upon earlier recurrence.Case presentation<p class="a...