Endocrine Abstracts

Background: Hyperandrogenism is infrequent in menopause, being the most common cause benign pathologies. However, it can also be produced by an ovarian or adrenal tumour. Correct diagnosis and location can be challenging because small lesions may not be visible with modern imaging studies. We report a case of ovarian stromal hyperplasia where selective venous catheterization and hormonal sampling were performed to find the origin of excessive androgen production.<p class="...

Introduction: Graves’ ophthalmopathy (GO) is an orbital autoimmune disorder closely linked to thyroid autoimmunity, mainly Graves’ disease. After an initial progressive inflammatory period (active phase), GO stabilizes and eventually subsides (inactive phase). Treatment should rely on a thorough assessment of the activity and severity of GO and its impact on the patient’s quality of life. Patients with active, mild disease generally benefit from local therapies ...

Introduction: Kallmann Syndrome (KS) is a genetically heterogeneous disease characterised by hypogonadotrophic hypogonadism with anosmia or hyposmia. It can be associated with X-linked ichthyosis (XLI) in a contiguous gene syndrome related to a Xp22.3 region deletion, which include KAL1 and STS genes.Case report: We report a case of a 32-year-old male with ichthyosis referred for evaluation of high height (2.07 m), overweight (BMI 29.6 kg/m2) ...

Background: Congenital adrenal hyperplasia (CAH) is a rare autosomal recessive disorder, of which 21-hydroxylase deficiency (21OHD) is the most frequent form. 11 beta-hydroxylase deficiency (11bOHD) is the second most common type of CAH. This pathology results from inactivating mutations in CYP11B1 gene.Case presentation: We describe a case of a 48-year-old woman with 11bOHD, presented with hypokalemia hypertension, early adrenarche and mild vir...

Introduction: Fetal goiter is an infrequent and potentially life-threating condition derived from either fetal hypothyroidism or hyperthyroidism. TSH-receptor stimulating antibodies (TSH-R-ABs) can cross the placenta and induce fetal hyperthyroidism and goiter. We describe a rare case of TSH-R-ABs-induced hyperthyroidism in a woman with autoimmune hypothyroidism (AH) without previous hyperthyroidism.Case Report: A 28 years old pregnant woman under treatm...

Introduction: Surgical resection is currently considered the standard treatment for symptomatic insulinomas; however, its morbidity is high (>10%) and it is restricted to suitable candidates. In recent years, alternative minimally invasive therapies, such as endoscopic ultrasound (EUS)-guided ethanol ablation (EA), have emerged as new therapeutic options, especially for small lesions or poor surgical candidates. We report two cases of insulinoma ablated with EA.<p clas...

Introduction: Most serum cortisol (SeC) is linked to cortisol binding globulin and albumin. When the synthesis of proteins is reduced or increased, SeC does not reflect the actual free cortisol (FC) (active fraction). Methods for FC analysis are very laborious and expensive, which makes difficult to use them as a routine laboratory tests. Salivary cortisol (SaC) mirrors the FC in serum, being its measurement easier and cheaper. The determination of SaC, instead of tot...

Introduction: Prader Willi syndrome (PWS) is the most common syndromic form of obesity, caused by the absence of expression of the paternally active gens on the long arm of chromosome 15.The 16p11.2 microdeletion has recently been recognized as a syndromic condition appearing to be a predisposing factor for overweight, being the second most common genetic cause of obesity. One possible causative gen- SH2B1- involving leptin and insulin signaling, has been identified, although ...

Introduction: Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a rare cause (<2 percent) of endogenous Cushing’s syndrome, usually characterized by enlarged adrenal glands containing multiple functioning nonpigmented macronodules. PBMAH was thought to be sporadic, but recently a genetic component has been described. Specifically, inactivating mutations in ARMC5 (Armadillo-repeat containing 5), a suppressor gene, have been found in many familial c...

Background: Preconception planning is essential for a successful pregnancy in women with pregestational diabetes,although many women still do not plan their pregnancies. The rapid outbreak of T2DM among the general population, including women of childbearing age, is one of the largest public health issues. The aim of this study is to describe time trends in preconception planning, obstetric and perinatal outcomesduring the past 8 years in ourpregestational care unit, focusing ...