Endocrine Abstracts

Introduction: Inferior petrosal sinus sampling (IPSS) has been considered to be the gold standard for differential diagnosis of Cushing’s Disease (CD) and ectopic ACTH secretion (EAS).Aim: To describe the experience of our centre in performing IPSS, its safety and efficacy; assess remission rates from transphenoidal surgery and clinical course; approach to the difficulty in the etiological diagnosis of ACTH-dependent Cushing’s Syndrome.<p c...

IntroductionParathyroid carcinoma (CaPa) is an extremely rare cause of primary hyperparathyroidism. Patients with CaPa usually present severe hypercalcemia with abrupt bone and renal diseases, neurologic manifestations and gastrointestinal symptoms. However, sometimes the presentation is insidious with nonspecific symptoms and mild hypercalcemia. Surgery is the only curative treatment and after surgery close monitoring of calcium levels are necessary due...

Introduction: McCune-Albright syndrome (MAS) consists of at least two of the following three conditions: polyostotic fibrous dysplasia (PFD), café-au-lait skin pigmentation and autonomous endocrine hyperfunction. The most common form of autonomous endocrine hyperfunction is precocious puberty, but other syndromes may be present, including acromegaly, hyperthyroidism, and Cushing syndrome. Acromegaly is seen in approximately 20% of patients with MAS. Treatment opt...

Introduction: X-linked adrenoleukodystrophy (X-ALD) is caused by a mutation in the ABCD1 gene, which encodes for a peroxisomal very long chain fatty acid (VLCFA) transporter. Clinically, X-ALD can present a wide spectrum of phenotypes, being the most frequent Adrenomyeloneuropathy, with ataxia, spastic paraparesis, sexual and sphincter dysfunction. Adrenocortical insufficiency (AI) occurs mainly in paediatric age and it can be the first manifestation of the disease in some cas...

Introduction: Congenital Adrenal Hyperplasia (CAH) results from enzymatic defects caused by autossomal recessive hereditary mutations characterized by deficient cortisol synthesis and, in most cases, increased androgen synthesis. 90–95% of the cases are originated by deficits in 21-hydroxylase and, in about 75% of the cases, there is evidence of mineralocorticoid deficiency.Case report: A 37-year-old patient was referred to an Endocrinology departm...

Introduction: Radioactive iodine (131I) therapy is a safe and cost-effective choice in Graves’ disease (GD). Usually only one treatment with 131I is sufficient, however, individual characteristics of the disease can lead to its recurrence. The aim of this study is to determinate the risk factors that influence the recurrence of GD after 131I.Materials and methods: Retrospective cohort study in 528 patients with GD who did <sup...

Introduction: Adrenocortical carcinoma (ACC) is a rare and aggressive tumor, with a poor prognosis and median survival of 3–4 years. Complete surgical resection is the only possibility of cure. The rate of post-surgical recurrence is high, so adjuvant treatment with mitotane plays a key role.Objectives: To evaluate predictive factors of response to adjuvant treatment with mitotane in monotherapy in patients that underwent surgical resection of ACC....

IntroductionThyroid dysfunction is the most common endocrine disorder in women of childbearing age, and is associated with menstrual irregularities, anovulation and infertility. Whether it is thyroid function and/or thyroid autoimmunity (AI) that affects functional ovarian reserve remains to be clarified.AimTo evaluate the association between functional ovarian reserve and thyroid AI in women with infertility...