We report here the first case of an association between thalassemia major, hemochromatosis, hypogonadotrophic hypogonadism and Turner's syndrome. The patient is an Albanese girl born in 1980; thalassemia major was diagnosed at 1 year and she was started on a transfusion program; in 1987 iron chelation therapy was started. Six years ago, at 7 years of age, her short stature was observed and she was referred to the endocrinology clinic for evaluation; the basal and stimulation tests done at that time failed to reveal growth hormone deficiency, hypothyroidism or any other disease. Nevertheless, at 12 years old, she was still prepubertal and there was a bone age delay of 1.5 years; a gonadotropin-releasing hormone (GnRH) stimulation test showed no response of either FSH (basal: 0.2 mU/ml; peak: 0.8 mU/ml) or LH (basal: < 0.1 mU/ml; peak: 0.6 mU/ml), suggesting hypogonadotrophic hypogonadism. Small dysmorphies called our attention to the possibility of Turner's syndrome which was confirmed by the karyotype (45 XO/46 XX). In this patient, thalassemia major and its lifelong consequences, namely the hemochromatosis-related hypogonadotrophic hypogonadism, masked the usual hormonal findings of Turner's syndrome.
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http://dx.doi.org/10.1515/jpem.1995.8.1.73 | DOI Listing |
Cureus
December 2024
Department of Occupational Therapy, Grand Valley State University, Grand Rapids, USA.
Parsonage-Turner syndrome (PTS) is a rare brachial plexus neuropathy with a sudden onset of upper extremity pain, weakness, and loss of range of motion (ROM). Studies on occupational therapy (OT) interventions are limited. The aim of this case report was to explore the OT experiences, interventions, and outcomes of a patient with PTS.
View Article and Find Full Text PDFJ Hand Surg Eur Vol
January 2025
Division of Plastic and Reconstructive Surgery, Department of Surgery, University of Florida College of Medicine, Gainesville, FL, USA.
Parsonage-Turner Syndrome after COVID-19 infection or vaccination is rare. Motor, sensory deficits and neuropathic pain may result from inflammation and compression around the brachial plexus. Early surgical intervention in patients with significant motor deficits may result in improved outcomes.
View Article and Find Full Text PDFChildren (Basel)
December 2024
Research Area for Innovative Therapy in Endocrinology, Bambino Gesù Children Hospital, IRCCS, 00165 Rome, Italy.
Before 1985, growth hormone (GH) was extracted from human pituitaries, and its therapeutic use was limited to children with severe GH deficiency (GHD). The availability of an unlimited amount of recombinant GH (rhGH) allowed for investigating the efficacy of its therapeutic use in a number of conditions other than GHD. Nowadays, patients with Turner syndrome, deficiency, Noonan syndrome, Prader-Willi syndrome, idiopathic short stature, chronic kidney disease, and children born small for gestational age can be treated with rhGH in order to improve adult height.
View Article and Find Full Text PDFCells
January 2025
Department of Pediatrics, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul 06591, Republic of Korea.
Turner syndrome (TS) can be determined by karyotype analysis, marked by the loss of one X chromosome in females. However, the genes involved in autoimmunity in TS patients remain unclear. In this study, we aimed to analyze differences in immune gene expression between a patient with TS, a healthy female, and a female patient with Graves' disease using single-cell RNA sequencing (scRNA-seq) analysis of antigen-specific CD4(+) T cells.
View Article and Find Full Text PDFActa Endocrinol (Buchar)
January 2025
Bursa Uludag University, School of Medicine, 1Department of Pediatric Endocrinology.
Turner syndrome is the most common sex chromosomal abnormality in about 1:2000-2500 live female births. While short stature and delayed puberty are the most common presentations of patients, atypical findings can also be seen. In this article, we present the Turner twins, who were diagnosed during inguinal hernia surgery when bilateral uterus and ovaries were found within the hernia sac.
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