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Nikolina Zdraveska, Maja Zdravkovska, Violeta Anastasovska, Elena Sukarova-Angelovska and Mirjana Kocova

dyshormonogenesis due to defects of thyroid hormone biosynthesis. The etiologic evaluation of CH is possible through several examinations, such as ultrasonography, scintigraphy, thyroglobulin measurement and perchlorate discharge test. There are also cases where the

Open access

Luigi Laino, Silvia Majore, Nicoletta Preziosi, Barbara Grammatico, Carmelilia De Bernardo, Salvatore Scommegna, Anna Maria Rapone, Giacinto Marrocco, Irene Bottillo and Paola Grammatico

category of DSD was found to be related to a large number of different DNA alterations, thus requiring multiple genetic studies to possibly achieve a precise etiological diagnosis in every patient. Subjects and methods Patients A cohort of 88 individuals

Open access

Lia Ferreira, João Silva, Susana Garrido, Carlos Bello, Diana Oliveira, Hélder Simões, Isabel Paiva, Joana Guimarães, Marta Ferreira, Teresa Pereira, Rita Bettencourt-Silva, Ana Filipa Martins, Tiago Silva, Vera Fernandes, Maria Lopes Pereira and Adrenal Tumors Study Group of the Portuguese Society of Endocrinology

for 69 (24.8%) patients. Data regarding etiological investigation were available in 246 patients. The most common causes were autoimmune adrenalitis (61.0%), genetic-related AD (14.2%) and infectious adrenalitis (7.3%). Thirty-eight cases (15

Open access

Dirk Weismann, Andreas Schneider and Charlotte Höybye

regarding the maximum rate of correction, which can safely be applied, and a gradual decrease in recommended upper limits over time can be observed ( 10 , 12 ). HN is a complicated condition with a large number of etiologies and treatment options. From a

Open access

H A Booij, W D C Gaykema, K A J Kuijpers, M J M Pouwels and H M den Hertog

of the etiology and effect of PD in these acute acquired brain injuries may assist in developing rational interventions and improve outcome. Methodology MEDLINE and EMBASE were searched for potentially relevant articles for the period January

Open access

N Bergmann, F Gyntelberg and J Faber

etiology seems multifactorial, which calls for new areas of prevention and intervention. One potential risk factor for the development of MES is chronic psychosocial stress, in the following referred to as stress. In general it is accepted to divide the

Open access

Rossella Cannarella, Teresa Mattina, Rosita A Condorelli, Laura M Mongioì, Giuseppe Pandini, Sandro La Vignera and Aldo E Calogero

be involved in the etiology of neurological symptoms of these patients. In fact, IGF1 protein has been reported to pass through the blood–brain barrier, and it is involved in normal central nervous system (CNS) development by promoting neuronal cell

Open access

Athanasios D Anastasilakis, Marina Tsoli, Gregory Kaltsas and Polyzois Makras

Langerhans cell histiocytosis (LCH) is a rare disease of not well-defined etiology that involves immune cell activation and frequently affects the skeleton. Bone involvement in LCH usually presents in the form of osteolytic lesions along with low bone mineral density. Various molecules involved in bone metabolism are implicated in the pathogenesis of LCH or may be affected during the course of the disease, including interleukins (ILs), tumor necrosis factor α, receptor activator of NF-κB (RANK) and its soluble ligand RANKL, osteoprotegerin (OPG), periostin and sclerostin. Among them IL-17A, periostin and RANKL have been proposed as potential serum biomarkers for LCH, particularly as the interaction between RANK, RANKL and OPG not only regulates bone homeostasis through its effects on the osteoclasts but also affects the activation and survival of immune cells. Significant changes in circulating and lesional RANKL levels have been observed in LCH patients irrespective of bone involvement. Standard LCH management includes local or systematic administration of corticosteroids and chemotherapy. Given the implication of RANK, RANKL and OPG in the pathogenesis of the disease and the osteolytic nature of bone lesions, agents aiming at inhibiting the RANKL pathway and/or osteoclastic activation, such as bisphosphonates and denosumab, may have a role in the therapeutic approach of LCH although further clinical investigation is warranted.

Open access

Jordyn Silverstein, Wesley Kidder, Susan J Fisher, Thomas A. Hope, Samantha Maisel, Dianna Ng, Jessica Van Zifle, Chloe Atreya and Katherine Van Loon

BACKGROUND: Colorectal carcinoma (CRC) during the peri-partum period is challenging to diagnose due to the overlapping symptoms of CRC and pregnancy. This is the first case series to investigate clinicopathologic, hormononal, and molecular features of CRC diagnosed during the peri-partum period. We hypothesized that advanced presentations of CRC could possibly be mitigated by pregnancy-related hormonal factors.

METHODS: We conducted a retrospective review of five women diagnosed with CRC during the peri-partum period and studied the clinical and molecular features of their cancer.

RESULTS: All patients presented with stage IV CRC at diagnosis; three had primary tumors in the rectum, and two had primary tumors in the sigmoid colon. The liver was the most common metastatic site (3 of 5 women). Immunohistochemistry stains were negative for estrogen receptors alpha (ERα) and beta (ERβ), and one tumor demonstrated low-level positivity for PR (1%). Formalin-fixed and paraffin-embedded (FFPE) biopsies from each case were tested with next-generation sequencing and found that all tumors were mismatch repair (MMR) proficient, and three harbored a KRAS mutation. Germline testing showed no predisposition to CRC; however, several somatic variants of undetermined significance (VUS) were identified.

DISCUSSION: CRC in the peri-partum period poses significant risk factors for presentations with advanced disease due to diagnostic challenges. While our study provides no evidence that pathogenesis of CRC during pregnancy is driven by elevated estrogen and/or progesterone levels during pregnancy, additional putative etiologic factors, including placental growth factors, the immunosuppressive state of pregnancy, and other physiologic processes during pregnancy, warrant future study.

Open access

E Kohva, P J Miettinen, S Taskinen, M Hero, A Tarkkanen and T Raivio

chromosome DSD, 46,XY DSD and 46,XX DSD ( 1 ). The phenotypic spectrum of DSD is wide, and it can manifest as a complete sex reversal, a solitary genital abnormality or it can be a part of a syndrome affecting other organ systems ( 2 ). The etiology of DSD is