Endocrine Abstracts

Introduction: Germline mutations in tumour suppressor gene PTEN cause heterogeneous phenotypes, that comprise the spectrum of PTEN-hamartoma tumour syndrome (PHTS). Manifestations include macrocephaly, developmental delay, cutaneous lesions, intestinal polyposis and increased risk of neoplasms. Thyroid nodules are identified in about 75% of patients and follicular cell-derived cancer affects 35% of cases, some of which diagnosed as early as 7 years old.C...

Introduction: Neurofibromatosis type 1 is a disease caused by mutations in the tumor suppressor gene NF1.Although pheochromocytoma is a rare manifestation in these patients (~0.1–5.7%), the incidence is significantly higher than that of the general population.Results (case description): A 50 years old female patient had a clinical diagnosis of neurofibromatosis type 1 since she was 5 years old. She received follow-up in ...

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: Activating and inactivating mutations of the GNAS gene (encoding the Gsα protein) cause McCune–Albright Syndrome and Albright’s Hereditary Osteodystrophy, respectively. In both, the bone and the endocrine system are often affected. In McCune–Albright Syndrome the most common endocrine manifestation is precocious puberty, but thyroid lesions and hormonal overproduction are also described. In Albright’s Hereditary Osteodystrophy there m...

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....

Introduction: Addison Disease is a rare condition with an estimated incidence in the developed world of 0.8 cases per 100 000 population. It is associated with relevant morbidity and mortality rates, but once the diagnosis is made it can be easily managed. When Addison Disease is associated with other autoimmune diseases, the diagnosis of polyglandular autoimmune syndrome can be set. The recognition of symptoms and signs can be challenging and clinicians should be aware of aty...

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...