Endocrine Abstracts

Introduction: Langerhans Cell Histiocytosis (HCL) is a rare granulomatous disease, unknown etiology, with a wide clinical spectrum. The pituitary is affected in 25% of cases, with diabetes insipidus being the earliest and most frequent feature. Although it is more common in pediatric age, it can also be developed by adults.Clinical case: A 39-year-old, caucasian, woman presents with polydipsia with 5L/day of water and an appetite for cold drinks, polyuri...

Introduction: The Quervain’s disease is an infrequent subacute thyroiditis (ST) that results in granulomatous infiltration of the gland’s parenchyma. Is usually diagnosed clinically based on cervical pain, systemic symptoms, altered thyroid function tests (TFTs) and history of upper respiratory tract infection. It is a benign self-limited condition that may share US features with malignancy which may result in improper therapy, including lobectomy.<p class="abs...

Background: GH resistance or primary IGF1 deficiency (PIGFD) presents with growth failure, low serum IGF1 and normal/elevated serum GH. PIGFD comprises a spectrum of phenotypic and biochemical abnormalities for which genetic GH–IGF1 axis defects may be causative.Objective: Genotyping of PIGFD patients referred for sequencing of candidate genes.Methods: From 2008 to 2013, 62 patients (42 males and 20 females), median age 6.9 ye...

Introduction: Increased adrenocortical production appears to be associated with acne and hirsutism in PCOS. However, the etiological role of androgens in the pathogenesis of acne per se is far from being clear. In the present study, we aimed to evaluate adrenocortical function in women with post-adolescent severe acne in comparison with patients with PCOS and healthy women.Design: The study included 32 women with post-adolescent severe acne, 32 ...

Introduction: We have reported a syndrome of hypoketotic hypoglycaemia due to the de novo p.Glu17Lys mutation in AKT2, a serine threonine kinase central to insulin signalling. We aimed to evaluate further the physiological and cellular consequences of the p.Glu17Lys mutation.Results: Two previously reported 17-year-old men heterozygous for the AKT2 p.Glu17Lys mutation, each of whom had experienced severe fasting hypoglycaemia in early life, were...

Introduction: The guidelines of American Thyroid Association from 2011 include age over 30 as one of the risk factors for hypothyroidism in pregnancy. The aim of our study was to verify whether age increases the risk of autoimmune thyroid diseases (AITD) in pregnant women.Methods: We performed a cross-sectional study in 5223 unselected consecutive pregnant women in the 9th–12th gestational weeks. In a single laboratory, we measured serum concentrati...

Despite it’s believed that sexual function may improve after liver transplantation (LT), many patients complain about unsatisfactory sexual life. There are few longitudinal data on the endocrine changes which occur after liver transplantation.Aim: To evaluate erectile sexual dysfunction (ESD) prevalence and factors associated with its development, especially with relation to the status of sex steroids. Patients and Methods: 54 post-LT male patients ...

The aim of this epidemiologic study, performed in a wide population of high-school students in Northern Italy, was to obtain an unbiased estimate of the prevalence of hyperandrogenic states in adolescents and young females.2052 female students, aged 15–19 years, were consecutively contacted. 939/2052 (45.8%) refused to participate in the study, but 431 of the 939 non-participants (45.9%) agreed to fill out a brief questionnaire aimed to broadly asse...

Objective: To identify miRNAs predictors of poor prognosis in adrenocortical cancer.Methods: Using microarrays, we evaluated the expression of 728 human miRNAs in six adenomas (ACAs) and twelve carcinomas (ACCs). The ACC group was composed of two subgroups A and B consisting of six recurrent (subgroup A) and six non-recurrent tumors (subgroup B). These two distinct subgroups have been characterized recently (de Reynies et al, 2009) on the basis of distin...

Similarly as in autoimmune Addison’s disease (AAD), diagnosed in about 80% of primary adrenal insufficiency, idiopathic isolated secondary adrenal insufficiency (ISAI) seems to have an autoimmune origin.Within the last 35 years we have registered in our Department 325 patients with ISAI (F/M ratio 10.9) aged 17–87 years. In comparison, we have in our registry 241 patients with AAD, collected within over 40 years. The diagnosis of ISAI was based...