Elevated levels of neutrophils with a pro-inflammatory profile in Turner syndrome across karyotypes.

Turner syndrome (TS) presents with multiple karyotypes, including 45,X monosomy and variants such as isochromosomes and mosaicism, and is characterized by several co-morbidities, including metabolic conditions and autoimmunity. Here, we investigated the genomic landscapes across a range of karyotypes. We show that TS have a common autosomal methylome and transcriptome, despite distinct karyotypic variations.

Transition to Adult Care in Turner Syndrome: Research Gaps and Strategies for Achieving Success.

Health care transition is a process by which children with chronic medical conditions gradually and purposefully move from pediatric to adult-centered health care systems. While transition guidelines have been published by multiple national and international organizations, transition processes have not been optimized for many populations, including youth with Turner syndrome (TS). Numerous barriers exist, at both the system and individual/family level.

Morbidity in males with 45,X/46,XY resembles the morbidity pattern in Turner syndrome: a national population-based study.

Context: Few studies have reported on males with 45,X/46,XY mosaicism. Most studies stem from pediatric settings and knowledge of natural history and long-term health outcomes are therefore lacking.

Objective: To describe long-term health outcomes in males with 45,X/46,XY in comparison to the general population.

Positron Emission Tomography Imaging of Pheochromocytoma and Paraganglioma-18F-FDOPA vs Somatostatin Analogues.

Context: Functional imaging with positron emission tomography (PET) scans is an essential part of the diagnostic workup for pheochromocytoma and paraganglioma (PPGL). The purpose of this review is to (1) provide a brief overview of functional imaging for PPGL, (2) summarize selected present and older guideline and review recommendations, and (3) conduct a literature review on the diagnostic performance of the most used PET tracers for PPGL.

Evidence Acquisition: We conducted a systematic literature search in PubMed from January 2004 to August 2024 with the search string ("Pheochromocytoma" OR "Paraganglioma") AND ("Positron Emission Tomography" OR "Radionuclide Imaging" OR ("PET" AND ("FDG" OR "DOTATOC" OR "DOTANOC" OR "DOTATATE" OR "DOPA" OR "FDOPA"))).

Acromegaly management in the Nordic countries: A Delphi consensus survey.

Objective: Acromegaly is associated with increased morbidity and mortality if left untreated. The therapeutic options include surgery, medical treatment, and radiotherapy. Several guidelines and recommendations on treatment algorithms and follow-up exist.

Incidence, Treatment, and Survival of Adrenocortical Carcinoma in Denmark 2003-2019.

Objectives: Adrenocortical carcinoma (ACC) is a malignant tumor originating from the adrenal cortex. The aim of the study was to report the incidence of ACC and survival of ACC in Denmark. The secondary objective was to describe the impact of treatment with mitotane on survival.

[F]FDOPA PET/CT is superior to [Ga]DOTATOC PET/CT in diagnostic imaging of pheochromocytoma.

Background: Both [F]FDOPA (FDOPA) and [Ga]DOTATOC PET/CT (DOTATOC) are widely used for detection of pheochromocytomas/paraganglioma (PPGL). However, direct comparisons of the performance of the two tracers are only available in small series. We conducted a retrospective comparative analysis of FDOPA and DOTATOC to assess their sensitivity and accuracy in detecting PPGL when administered based on suspicion of PPGL.

Endocrine morbidity in neurofibromatosis 1: a nationwide, register-based cohort study.

Objective: Previous studies have found that neurofibromatosis 1 (NF1) is associated with an increased risk for endocrine disorders, but no comprehensive overview of the risk for specific endocrine disorders has been published. We assessed endocrine morbidity in individuals with NF1 from information on hospital admissions, surgery for endocrine disorders, and relevant medication.

Design: A nationwide population registry-based cohort study.

Morbidity, mortality, and socioeconomics in Klinefelter syndrome and 47,XYY syndrome: a comparative review.

Context: Klinefelter syndrome (KS, 47,XXY) and 47,XYY syndrome are genetic conditions characterized by a supernumerary sex chromosome. The conditions share many traits, but considerable phenotypic differences are seen between the two. Focusing on morbidity, mortality, and socioeconomics, this review highlights similarities and differences.

The TGFβ system and TIMP1 and 3 genotypes in Turner syndrome-Relation with aortic congenital malformations.

Objective: Cardiovascular complications and congenital malformations are known traits in Turner syndrome (TS), which increases mortality. Women with TS have varying phenotype and cardiovascular risks. A biomarker assessing the risk for cardiovascular complications could potentially reduce mortality in high-risk TS and reduce screening in TS participants with low cardiovascular risk.

Increased morbidity evaluated on hospital contacts and prescriptions among 100,834 Danish breast cancer survivors.

Background: Cardiovascular disease competes with breast cancer (BC) as the leading cause of death for females diagnosed with breast cancer. Not much is known concerning morbidity and medicine use in the short and long term after a BC diagnosis.

Aim: The aim of this study was to determine acute and long-term morbidity in Danish women treated for BC.

Ocular morbidity in Marfan syndrome: a nationwide epidemiological study.

Background: Ophthalmic complications are profound in Marfan syndrome (MFS). However, the overall burden is not well described. Our purpose was to evaluate the ocular morbidity in a nationwide perspective.

The Socioeconomic Consequences of Cushing's Syndrome: A Nationwide Cohort Study.

Context: The long-term somatic and psychiatric consequences of Cushing's syndrome are well-described, but the socioeconomic consequences are largely unknown.

Objective: We studied employment status, educational level, risk of depression, and other socioeconomic outcomes of Cushing's syndrome in the years before diagnosis and after surgery.

Design: Nationwide register-based cohort study.

Musculoskeletal diseases in Marfan syndrome: a nationwide registry study.

Background: Marfan syndrome is associated with abnormalities in the musculoskeletal system including scoliosis, pectus deformities, protrusio acetabuli, and foot deformities. Over a life span, many patients with Marfan syndrome will need treatment; however, the musculoskeletal morbidity over a life span is not well described. The aim of the present study was to assess the overall burden of musculoskeletal disease in patients with Marfan syndrome.

The comorbidity landscape of 47,XXX syndrome: A nationwide epidemiologic study.

Purpose: This study aimed to describe the comorbidity pattern in 47,XXX syndrome.

Methods: This was a registry-based study of hospital diagnoses and prescribed medication in a nationwide cohort of females with 47,XXX (n = 103) and 46,XX/47,XXX (n = 57) in which they were compared with 16,000 age-matched general population female controls.

Results: The overall occurrence of hospital diagnoses was significantly increased in females with 47,XXX when compared with controls (incidence rate ratio = 2.

Disorders of the eye, ear, skin, and nervous system in women with Turner syndrome -a nationwide cohort study.

The literature about eye, ear, nose, skin, and nervous system disorders in women with Turner syndrome is equivocal. Impaired vision and hearing in women with Turner syndrome have been described, and case reports of Turner syndrome girls suffering from epilepsy have been published, but no large population-based-studies have explored the occurrence of any of these disorders. We aimed to investigate the risk of admission with disorders related to the eye, ear, nose, skin, and nervous system, compared with background females, and the impact of hormone replacement therapy on these conditions.

Non-aortic cardiovascular disease in Marfan syndrome: a nationwide epidemiological study.

Objectives: Studies indicate that other cardiovascular problems than aortic disease are a burden for patients with Marfan syndrome (MFS). The aim of the study was to assess the extent of this issue.

Methods: A registry-based population study of patients with a Ghent II verified MFS diagnosis.

Maternal health and pregnancy outcome in diagnosed and undiagnosed Marfan syndrome: A registry-based study.

In Marfan syndrome (MFS), pregnancy is considered as high risk due to the deficiency of fibrillin in the connective tissue and increased risk of aortic dissection. The objective was to demonstrate the consequences on maternal health, in women with diagnosed and undiagnosed MFS at the time of pregnancy and childbirth. By using national health care registries, we identified all pregnancy related outcomes, from women with MFS (n = 183) and an age-matched background population (n = 18,300).

Fracture Rates and Fracture Risk in Patients With Marfan Syndrome: A Nationwide Register-Based Cohort Study.

Marfan syndrome (MFS), a rare genetic disease, has a prevalence of 6.5 in 100,000. Studies show that patients with MFS have reduced areal bone mineral density (BMD) compared with non-MFS individuals.

Increased occurrence of liver and gastrointestinal diseases and anaemia in women with Turner syndrome - a nationwide cohort study.

Background: Liver and gastrointestinal diseases are frequent in women with Turner syndrome. However, their association with bleeding disorders, anaemia and the impact of hormone replacement therapy is unknown.

Aims: To investigate the risk of liver and gastrointestinal diseases, haemorrhage and anaemia in women with Turner syndrome compared with the female background population, and the long-term impact of hormone replacement therapy on these conditions.

Incidence and Clinical Presentation of Pheochromocytoma and Sympathetic Paraganglioma: A Population-based Study.

Context: Pheochromocytoma and sympathetic paraganglioma (PPGL) are rare catecholamine-secreting tumors but recent studies suggest increasing incidence. Traditionally, PPGL are described to present with paroxysmal symptoms and hypertension, but existing data on clinical presentation of PPGL come from referral centers.

Objective: We aimed to describe time trends in clinical presentation and incidence of PPGL in a population-based study.

Cancer occurrence in Turner syndrome and the effect of sex hormone substitution therapy.

Objective: Although the overall risk of cancer is not increased in Turner syndrome, the pattern of cancer occurrence differs from the general population. We aim to describe the cancer morbidity pattern in Turner syndrome and evaluate the effect of long-term hormone replacement therapy (HRT).

Design: Nationwide epidemiological study.