Endocrine Abstracts

Introduction: Von Hippel-Lindau (VHL) disease is an inherited, autosomal dominant syndrome manifested by a variety of benign and malignant tumors, with an incidence of about 1 in 36 000 individuals and a mean age at presentation of 26 years.We present a family (mother and daughter) case of possible type 2A VHL disease diagnosed with multiple VHL-associated tumors in the absence of an available genetic testing. They both presented in our clinic in 2013 wi...

Introduction: Complete long-term clinical remission in occult ectopic ACTH syndrome after a single adrenalectomy is unexpected.Case report: 5 year ago, a 54-year-old man was admitted because of resistant HTA, multiple severe vertebral fractures, muscle weakness and cushingoid features of at least 1 year. Adrenal tests were diagnostic of ACTH-dependent Cushing’syndrome: ACTH=263 pg/ml, high plasma (62 μg/dl) and urinary free cortisol (UFC=1256 &...

Introduction: Severe hirsutism and virilisation, especially if occurring later in life and with rapid onset, should prompt the search for rare but potentially threatening causes such as an androgen secreting ovarian or adrenal tumour.We present the case of a 47-year-old woman referred to our clinic with obesity, severe hirsutism, alopecia, acne, and deepening of the voice that appeared insidiously 2 years ago, along with amenorrhoea which she interpreted...

The multiple endocrine neoplasia syndrome type 2A (MEN 2A) is the consequence of a heritable mutation in the RET proto-oncogene, leading to a very high predisposition to develop medullary thyroid carcinoma (MTC), pheochromocytoma and primary parathyroid hyperplasia. Screening of ‘at-risk’ family members and prophylactic thyroidectomy is recommended – but not always easily accomplished.Our proband was diagnosed with MTC in 1977 (at age 21),...

Lanreotide has long been used in the therapy of GH secreting pituitary adenomas and other somatostatin receptor positive neuroendocrine tumors.Aims: To determine the impact on glucose metabolism of the 6 months of lanreotide therapy, beside of the antisecretory and antiproliferative effects.Patients and methods: Seven patients with active acromegaly treated with lanreotide, admitted in the Department of Neuroendocrinology, Institut...

Among hypertensive population, almost 10% have primary hyperaldosteronism. In these cases, most abnormalities are related to hypokaliemia with progressive or acute onset of the symptoms.We present the case of 34-year-old male patient, without significant pathological history, with a sudden neurological episode, dominated by tetraplegia and mild elevated blood pressure. Extremely low values of serum potassium are found. Diabetes mellitus is also discovere...

Introduction: Galactocele is a rare form of cystic, benign lesion of the breast, occurring when a mammary duct becomes obstructed and over filled with milk. It usually appears in postpartum women, either lactating or not, but it is extremely rarely seen in postmenopausal women or in men.Subject: We present the case of a 37-year-old female patient, nullipara, diagnosed with a microprolactinoma 18 months ago, and treated with bromocriptine since then (7.5 ...

Primary therapy in prolactinomas, the most frequent pituitary adenomas, consists in ergot derivatives dopamine agonists (bromocriptine or cabergoline) which lowers prolactin levels and shrink the tumour. Bromocriptine was the first drug used, but the therapeutic levels are attained after several days/weeks, therefore an acute suppression test is not possible. However, the biological response is variable and 10% of prolactinomas are resistant to medical therapy. In order to eva...

Background: Cushing’s syndrome is represented by the cummulation of signs and symptoms of excess glucocorticoids and has many potential causes. Approximately 20 percent of all cases are represented by ACTH-independent adrenal tumors – with a majority of these being represented by cortisol secreting adrenal adenomas. Generally, a large adrenal tumor has over 5 cm in diameter and the risk of it being malignant raises proportionately with the dimensions. Large adrenal t...

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...