Endocrine Abstracts

Objective: To evaluate the optimal parameters and the cut-off points of captopril challenge test (CCT) in the diagnosis of primary aldosteronism (PA) using chemiluminescence immunoassays (CLIA).Methods: Patients with clinically suspected PA who admitted to our hospital between July 2021 and December 2021 were recruited. Both supine and upright aldosterone to renin ratio (ARR) were calculated in all the participants and 21 healthy volunteers. CCT was perf...

Lithium is commonly used for management of Bipolar disorders. Li-induced thyroid dysfunction, including hypothyroidism and goitre are the most prevalent while hyperthyroidism is very infrequent, mainly characterised by transient painless thyroiditis but it increases the propensity to thyroid autoimmunity in susceptible individuals. Thyroid profile, thyroid auto-antibodies, assessment of thyroid size should be performed among patients initiating lithium, at baseline and later a...

Introduction: Li-Fraumeni syndrome is a rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults. It is a hereditary disease with high penetrance autosomal dominant transmission that is due, in 70% of the cases, to germline mutations in the gene TP53. The most common cancers associated with this disorder are brain tumors, sarcomas, breast cancer and adrenocortical tumors.Methods: We de...

Li Fraumeni syndrome (LFS) is a prototypic cancer predisposition syndrome, characterized by multiple, early-onset malignant tumours including breast cancer, bone and soft tissue sarcomas, brain tumors and adrenocortical carcinoma (ACC). LFS is most commonly attributed to germline mutations in the TP53 tumor-suppressor gene. p53 activity is tightly regulated by multiple post-translational mechanisms, disruption of which may lead to tumorigenesis. ACC occurs at disproportionatel...

The index case, a 26-year-old man, presented with a 15-month history of gynaecomastia. Investigations revealed a large left-sided adrenal mass that secreted oestrone and oestradiol, with suppression of FSH, LH and testosterone production. It was removed in 1991 with correction of the hormonal abnormalities and follow-up has shown no recurrence to date.In April 2001 the eighteen-month old daughter of the index case developed greasy skin, acne, pubic hair...

Background: Currently, multiple treatment options are available for the treatment of acromegaly. However, cure is obtained only in 50% of patients with macroadenomas after surgery. Persistent tumor enlargement occur in 2.2% of the patients treated with somatostatin analogs and in 1.6–2.9% of the patients treated with pegvisomant. The nuclear antigen Ki-67 is related to growth potential and is also a major prognostic indicator for pituitary adenomas. Studies demonstrated t...

Introduction: Precocious puberty in boys is the development of secondary sexual characteristics before 9 years of age. Peripheral precocious puberty (PPP), as opposed to central precocious puberty (CPP), is caused by autonomous secretion of androgens or human chorionic gonadotropin (hCG). Testicular volume, penis size, growth velocity, gonadotropin and androgen levels, and bone age readings aid in diagnosing precocious puberty and in identifying its cause. Distinguishing CPP f...

Introduction: In 2004, the WHO defined atypical pituitary adenomas (APAs) those with Ki-67 >3%, excessive p53 expression and increased mitotic activity. The usefulness of this classification is still controversial.Aim: To compare the clinical and prognostic features in a series of typical and atypical pituitary adenomas.Materials and methods: We retrospectively reviewed 343 consecutive PAs. APAs represented 18.7% of the cases. ...

The melanocortin-2-receptor (MC(2) receptor), also known as the ACTH receptor, is a critical component of the hypothalamic-pituitary-adrenal axis. The importance of MC(2) receptor in adrenal physiology is exemplified by the condition familial glucocorticoid deficiency (FGD), a potentially fatal disease characterised by isolated cortisol deficiency. MC(2) receptor mutations cause ~25% of cases. The discovery of a MC(2) receptor accessory protein MRAP, mutations of which account...

The melanocortin-2-receptor (MC(2) receptor), also known as the ACTH receptor, is a critical component of the hypothalamic-pituitary-adrenal axis. The importance of MC(2) receptor in adrenal physiology is exemplified by the condition familial glucocorticoid deficiency (FGD), a potentially fatal disease characterised by isolated cortisol deficiency. MC(2) receptor mutations cause ~25% of cases. The discovery of a MC(2) receptor accessory protein MRAP, mutations of which account...