A 35-year-old primiparous woman was diagnosed with Turner syndrome at the age of 12 yr due to short stature. Her karyotype showed a mosaic pattern [45, X(19)/46, XX(11)]. She had been followed up by the pediatric service. GH was not prescribed because, although she was of relatively short stature, her growth trajectory was reasonable. She was started on estrogen replacement therapy at 15 yr of age and switched to Kaufmann therapy after 1 yr. After transitioning her care to the gynecology service at 20 yr of age, she was screened for complications and Kaufmann therapy was continued. No abnormalities were detected in the pre-pregnancy screening. She conceived by fertilization and embryo transplantation with oocyte donation. No severe complications occurred during gestation, and she gave birth to a female neonate vaginally at 41 wk and 6 d of gestation. The neonate's birthweight was 3166 g, and her Apgar scores were 8 and 9 at 1 and 5 min, respectively. No severe complications occurred during the postpartum period. Comprehensive medical treatment and appropriate transition from pediatric to adult services may improve the pregnancy outcomes of women with Turner syndrome.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6476946 | PMC |
http://dx.doi.org/10.1297/cpe.28.37 | DOI Listing |
Retin Cases Brief Rep
December 2024
Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, MN, USA.
Purpose: To report the clinical presentation, treatment course, and outcome of a case of bilateral frosted branch angiitis (FBA) and neuroretinitis associated with acute Epstein-Barr virus (EBV) infection in a pediatric patient with Turner Syndrome.
Methods: Case report with multimodal ocular imaging and extensive systemic workup.
Results: A 16-year-old female with Turner syndrome presented with acute bilateral vision loss, hearing loss, and ataxia.
Nat Commun
January 2025
Rheumatology Research Group, Department of Inflammation and Ageing, College of Medicine & Health, University of Birmingham, Birmingham, UK.
Tertiary lymphoid structures play important roles in autoimmune and non-autoimmune conditions. While many of the molecular mechanisms involved in tertiary lymphoid structure formation have been identified, the cellular sources and temporal and spatial relationship remain unknown. Here we use combine single-cell RNA-sequencing, spatial transcriptomics and proteomics of minor salivary glands of patients with Sjogren's disease and Sicca Syndrome, with ex-vivo functional studies to construct a cellular and spatial map of key components involved in the formation and function of tertiary lymphoid structures.
View Article and Find Full Text PDFCongenit Anom (Kyoto)
January 2025
Department of Obstetrics and Gynecology, Yokohama City University School of Medicine, Yokohama, Japan.
Rev Bras Ortop (Sao Paulo)
November 2024
Hospital Israelita Albert Einstein, São Paulo, SP, Brasil.
Brachial neuritis, or Parsonage-Turner syndrome, is a rare disease characterized by a sudden, self-limiting pain in the upper limb followed by weakness and atrophy of the shoulder girdle muscles. Bilateral brachial plexus involvement occurs in between 10 and 30% of the patients, but symptoms are usually asymmetrical. The most common etiological factors include infection (25 to 55%) and autoimmune conditions.
View Article and Find Full Text PDFInt J Cardiol Congenit Heart Dis
March 2024
Department of Internal Medicine and Clinical Nutrition, Institution of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Background: Aortic dilation, cardiac malformations and hypertension are known risk factors for aortic dissection in Turner syndrome (TS). In the current guidelines, rapid growth of the aorta has been added as a risk marker. This study aimed to estimate the growth of the ascending aorta over time, to identify risk factors of aortic growth, and to describe aortic complications in TS.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!