Hanna Komarowska

Familial syndromes associated with neuroendocrine tumours.

Neuroendocrine tumours may be associated with familial syndromes. At least eight inherited syndromes predisposing to endocrine neoplasia have been identified. Two of these are considered to be major factors predisposing to benign and malignant endocrine tumours, designated multiple endocrine neoplasia type 1 and type 2 (MEN1 and MEN2). Five other autosomal dominant diseases show more heterogeneous clinical patterns, such as the Carney complex, hyperparathyroidism-jaw tumour syndrome, Von Hippel-Lindau syndrome (VHL), neurofibromatosis type 1 (NF1) and tuberous sclerosis. The molecular and cellular interactions underlying the development of most endocrine cells and related organs represent one of the more complex pathways not yet to be deciphered. Almost all endocrine cells are derived from the endoderm and neuroectoderm. It is suggested that within the first few weeks of human development there are complex interactions between, firstly, the major genes involved in the initiation of progenitor-cell differentiation, secondly, factors secreted by the surrounding mesenchyme, and thirdly, a series of genes controlling cell differentiation, proliferation and migration. Together these represent a formula for the harmonious development of endocrine glands and tissue.

Ghrelin as a potential molecular marker of adrenal carcinogenesis: In vivo and in vitro evidence

Adrenal tumours belong to one of the most prevalent neoplasms. It is a heterogeneous group with different aetiology, clinical manifestation and prognosis. Its histopathologic diagnosis is difficult and identification of differentiation markers for tumorigenesis is extremely valuable for diagnosis.

Primary hyperparathyroidism in pregnancy — a review of literature

Hyperparathyroidism during pregnancy is diagnosed in 0.5-1.4% women and poses a serious challenge. Symptoms of primary hyperparathyroidism (PHP), namely fatigue, lethargy and proximal muscle weakness, are unspecific and could be mistaken as complaints naturally present during pregnancy. Thus, diagnosis is usually delayed. Moreover, the complications of PHP are very common. They occur in 67% of mothers and even in up to 80% of progeny. Appropriate management is a matter of debate. According to clinical symptoms, biochemical evaluation and trimester of pregnancy an operation or conservative management should be introduced. The recognition and understanding of the illness is therefore vital. Due to the lack of unequivocal guidelines concerning pregnancy and PHP, in this review we will analyze recent findings to facilitate proper proceedings.

A diabetic patient with suppurative thyroiditis due to Salmonella enterica complicated by acute kidney injury

131 A 61 ‐year ‐old woman presented with sore throat and fever (up to 39.8°C), without cough, rhinitis, or diarrhea. She had obesity (body mass index, 33.3 kg/m2), chronic atrial fibrillation treat‐ ed with acenocoumarol and digoxin, hypertension for the past 14 years (well controlled with ramipril and spironolactone),2 and well ‐controlled type 2 diabetes (glycated hemoglobin, 5.5%) for the past 3 years (treated with metformin and gliclazide). Her medical history was negative for thyroid and renal disorders. Initially, she was consulted by a laryngologist, who performed an ultrasound examination of the neck. It demonstrated a mixed solid and cys‐ tic lesion (47 × 40 × 42 mm). Empirical therapy with clindamycin was introduced (600 mg twice daily), and the patient was referred to the depart‐ ment of endocrinology. On admission, she was weak and dehydrated. She reported a weight loss of 22 kg (from 117 kg to 95 kg) in the previous month. A physical ex‐ amination revealed restricted, swollen, tender, and painful lesion in the lower part of the neck (FIGURE 1A). Laboratory tests indicated inflamma‐ tion, acute kidney injury, and hyperthyroidism (Supplementary material online, Table S1). Fine‐ ‐needle aspiration biopsy (FNAB) of the lesion was performed. A cytological examination revealed the presence of inflammatory cells, while micro‐ biological tests identified Salmonella enterica sub‐ sp. enterica as a pathogenic factor. Blood and stool cultures were both negative for Salmonella. Due to acute kidney injury, noncontrast computed to‐ mography of the neck was performed (FIGURE 1B). During hospitalization, the patient received adequate therapy for acute kidney injury, which was most probably iatrogenic and induced by clindamycin therapy. Intravenous antibiotic The incidence of acute bacterial thyroiditis is es‐ timated at 0.1% of thyroid gland conditions re‐ quiring surgical treatment. The main pathogen causing acute thyroiditis is Staphylococcus aureus, while Salmonella enterica is extremely rare.1 CLINICAL IMAGE

Epithelioid angiomyolipoma mimicking adrenal cortical carcinoma: A diagnostic pitfall

Epithelioid angiomyolipoma (EAML) is a rare mesenchymal neoplasmic variant of angiomyolipoma characterized by aggressive growth and unpredictable outcome. Cases of local recurrence and distant metastasis have been described. The histopathological diagnosis may be difficult, as EAML often mimics other neoplasms. This is the case report of a 39-year-old male patient with EAML, which was initially diagnosed as adrenal cortical carcinoma, due to the lack of cooperation between clinicians and pathologists.