Turner syndrome and its variants.

Indian J Pediatr

Department of Diabetes and Endocrinology, Amrita Institute of Medical Sciences, Kochi, Kerala, India.

Published: February 2010

Case records of female patients with karyotype proven turner syndrome were analyzed. 11 patients had classic Turner karyotype (Group 1) and 13 patients had karyotype suggestive of one of the variants of Turner syndrome (Group 2). There was a median difference of 3 years between the age of presentation and the age of diagnosis in Group 2. Out of the thirteen patients in Group 2, 4 had no clinical stigmata of Turner Syndrome; the rest (n=9) had one or more of the typical clinical stigmata of Turner Syndrome. One patient with a complex mosaic karyotype also had an intracranial medulloblastoma. One patient in each group had coarctation of the aorta. 5 patients in Group 1 and 3 patients in Group 2 had primary hypothyroidism and received levothyroxine. The median Thyroid Stimulating Hormone levels were significantly higher among patients in group 1 than in group 2.

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12098-009-0226-7DOI Listing

Publication Analysis

Top Keywords

turner syndrome
20
patients group
16
group
9
patients karyotype
8
group patients
8
clinical stigmata
8
stigmata turner
8
patients
7
turner
6
syndrome variants
4

Similar Publications

Rare endocrine diseases are complex conditions that require lifelong specialized care due to their chronic nature and associated long-term complications. In Korea, a lack of nationwide data on clinical practice and outcomes has limited progress in patient care. Therefore, the Multicenter Networks for Ideal Outcomes of Pediatric Rare Endocrine and Metabolic Disease (OUTSPREAD) study was initiated.

View Article and Find Full Text PDF

Purpose: To identify key molecular components within the femoroacetabular impingement hip and compare the findings between male and female patients across varying age groups.

Methods: All patients undergoing hip arthroscopy for femoroacetabular impingement syndrome (FAIS) without hip dysplasia were included. During hip arthroscopy, performed at University of Wisconsin Health, loose articular cartilage, excess synovium, damaged labral tissue, and minimal adipose tissue were debrided only as needed for visualization and tissue repair purposes and collected.

View Article and Find Full Text PDF

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

J Clin Endocrinol Metab

January 2025

Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Palle-Juul Jensens Boulevard 165, 8200 Aarhus N, Denmark.

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.

View Article and Find Full Text PDF

Prevalence and management of hypertension in Turner syndrome: data from the International Turner Syndrome (I-TS) registry.

Endocr Connect

January 2025

H Turner, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford Centre for Diabetes Endocrinology and Metabolism, Oxford, United Kingdom of Great Britain and Northern Ireland.

Introduction: Cardiovascular disease is the commonest cause of death in Turner syndrome (TS) for which, arterial hypertension has a direct influence and is a key modifiable risk factor.

Objective: To investigate the prevalence and patterns of hypertension diagnosis and management in adult patients with TS who are registered in a large international multicentre database (TS-HTN study).

Methods: Retrospective multi-centre observational study of patients aged ≥18 years, included in the I-TS (International-TS) registry (2020-2022) utilising registry and participating centre collected data.

View Article and Find Full Text PDF

The importance of peripheral populations in the face of novel environmental change.

Proc Biol Sci

January 2025

Department of Forest and Wildlife Ecology, US Geological Survey, Wisconsin Cooperative Wildlife Research Unit, University of Wisconsin-Madison, 1630 Linden Drive, Madison, WI 53706, USA.

Anthropogenically driven environmental change has imposed substantial threats on biodiversity, including the emergence of infectious diseases that have resulted in declines of wildlife globally. In response to pathogen invasion, maintaining diversity within host populations across heterogenous environments is essential to facilitating species persistence. White-nose syndrome is an emerging fungal pathogen that has caused mass mortalities of hibernating bats across North America.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!