Objective: To report the case of an individual with PHP, Turner syndrome and Hashimoto's thyroiditis.
Case: A 16-year-old girl was referred to our hospital with chief complaint of short stature. She presented with round chubby facies, short neck, obesity and short stature. Radiography indicated short metatarsals and metacarpals, which mainly affected the second, third and fourth digits. Biochemistry revealed hyperphosphatemia, increased serum concentrations of parathyroid hormone and thyroid stimulating hormone, elevated levels of follicular-stimulating hormone and prolactin, and increased thyroid peroxidase antibody and thyroglobulin antibody. Radiographic examination revealed delayed bone age and pelvic ultrasonography demonstrated an immature uterus. Karyotype analysis showed 46,X,i(Xq10), while molecular analysis revealed a same sense mutation in exon 5 of GNAS (ATC → ATT, Ile).The specific diagnosis was made of Turner syndrome in the presence of Hashimoto's thyroiditis and PHP. She was treated with calcium supplementation, calcitriol and thyroxine.
Conclusions: This is the first case report to describe a combination of Turner syndrome with these other clinical entities, and their co-existence should be considered and further investigated.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.3109/09513590.2014.929654 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Revisiting the Neuropsychological and Clinical Profile of Mosaic Turner Syndrome With a Ring X Chromosome.
Am J Med Genet C Semin Med Genet
January 2025
Medical Genetics, Department of Pediatrics, Mass General for Children, Boston, Massachusetts, USA.
Determining karyotype-phenotype correlations for individuals with Turner syndrome ("TS individuals") is a longstanding research endeavor. The limited literature on Turner syndrome (TS) with a ring X chromosome hinders counseling about the neuropsychological and clinical features. To further characterize these phenotypes, we compared 27 TS individuals with 46,X,r(X)/45,X ("ring X") to 50 non-mosaic 45,X, and 27 mosaic 45,X/46,XX ("mosaic 45,X") individuals.
View Article and Find Full Text PDFHigh-level mosaicism for 45,X in 45,X/46,XX at amniocentesis in a pregnancy with positive non-invasive prenatal testing for Turner syndrome, postnatal decrease of the 45,X cell line and a favorable fetal outcome.
Taiwan J Obstet Gynecol
January 2025
Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Medical Laboratory Science and Biotechnology, College of Medical and Health Science, Asia University, Taichung, Taiwan. Electronic address:
First-trimester application of non-invasive prenatal testing in the genetic investigation of fetal cystic hygroma and hydrops fetalis associated with Turner syndrome.
Taiwan J Obstet Gynecol
January 2025
Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Medical Laboratory Science and Biotechnology, College of Medical and Health Science, Asia University, Taichung, Taiwan. Electronic address:
Cohort profile: Multicenter Networks for Ideal Outcomes of Rare Pediatric Endocrine and Metabolic Diseases in Korea (OUTSPREAD study).
Ann Pediatr Endocrinol Metab
December 2024
Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
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 PDFInterleukin-6 and Interleukin-8 Gene Expressions Differ Between Male and Female Patients at Time of Hip Arthroscopy for Femoroacetabular Impingement Syndrome.
Arthrosc Sports Med Rehabil
December 2024
Department of Orthopedic Surgery, University of Wisconsin - Madison, Madison, Wisconsin, U.S.A.
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.
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!