Endocrine Abstracts

Introduction: Klinefelter syndrome (KS) is the most common genetic form of male hypogonadism, despite becoming evident only after puberty. The syndrome is characterized by a primary gonadal defect, which results in small testes due to hyalinization of the seminiferous tubules, low to low normal range of serum testosterone levels and elevated serum gonadotrophins. Paradoxically, a few cases have been described, presenting with hypogonadotropism.Case-repor...

Introduction: Glycemic variability (GV) is a major consideration when evaluating quality of glycemic control. Coefficient of glycemic variation (%CV) is the metric of choice to define GV. International consensus on continuous glucose monitoring (CGM) recommends a %CV <36. Additional studies suggest that low %CV minimize hypoglycemia events <54 mg/dl.Aims: The aim of this analysis is to examine the expected relationship between the coefficient of ...

Introduction: Xanthomas are defined as aggregates of lipid-laden histiocytes. They are generally present in superficial soft tissues such as skin and subcutis but can occasionally involve deep soft tissues. Xanthomas are classically associated with hyperlipidemia, that can be primary or secondary to numerous disorders such as diabetes. This case highlights an atypical manifestation of T2D.Case report: A 61-year-old women was referred to our endocrinology...

Introduction: Graves’ disease (GD) is caused by TSH receptor antibodies (TRAbs) which stimulate thyroid activity. Initial treatment usually relies on antithyroid drugs (ATDs), mainly methimazole, carbimazole or propylthiouracil (PTU). These drugs inhibit the enzyme thyroperoxidase, blocking the synthesis of T3 and T4. Definitive therapeutic options include radioactive iodine and total thyroidectomy which are usually reserved for patients who do not tolerate or respond to ...

Introduction: Pazopanib is a tyrosine kinase inhibitor (TKI) considered to be a first-line treatment in adult patients with metastatic clear cell renal cell carcinoma (ccRCC). Thyroid dysfunction, namely hypothyroidism, is now recognized as being an important but potentially manageable side effect induced by such therapy. With this case we aimed to recall an endocrinological complication that can emerge during treatment with TKIs and highlight the importance of a thorough foll...

X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder of peroxisomal metabolism, characterized by deficient beta-oxidation of saturated very long chain fatty acids (VLCFA). The accumulation of VLCFAs is associated with demyelination of the nervous system, and impairment of steroid hormone synthesis in the adrenal cortex and the testis. The range of phenotypic expression is wide and dynamic. The three presentations most commonly seen are the childhood cerebral forms, a...

Introduction: Classic congenital adrenal hyperplasias (CAH) are mostly diagnosed in the first months/years of life and require a lifetime follow-up.Case report: A 33-year-old Caucasian man was admitted twice in the previous year to the emergency department; the first episode due to an acute tonsillitis, the second episode due to a lower respiratory tract infection, both associated with hyponatremia (125 mmol/l). Common causes of hyponatremia were exclude...

Introduction: Postpartum infarction of the anterior pituitary, known as Sheehan’s syndrome, is a rare cause of hypopituitarism. In many cases, the hormones deficiency is sequential which implies late diagnoses.Case Report 1: A 51-year-old woman was observed because her mother had medullary thyroid carcinoma. She had no evidence of endocrine neoplasia. Nevertheless, she was experiencing fatigue, hair loss and dry skin for several months. Her history ...

Introduction: Ectopic Cushing syndrome caused by a neuroendocrine tumor is uncommon and it’s diagnosis is often delayed. Optic neuritis is another rare disease, with some cases also associated to neuroendocrine tumors.Case-report: A 43-year-old female was referred to the endocrinology outpatient’s department due to obesity. She had a past history of bilateral optic neuritis of unknown etiology. She complained of weight gain, hair loss, acne, hi...

Introduction: First described in 2009, IgG4-related thyroid disease includes several subcategories: Riedel’s thyroiditis, fibrous variant of Hashimoto thyroiditis (FVHT), IgG4-related Hashimoto thyroiditis (HT) and Graves’ disease with elevated IgG4. It is rare, with most cases described in Japan and characterized by increased IgG4 plasma cells at immunostaining.Case Report: A 59-year-old Caucasian women, without known Asian ancestry, was obser...