Ten cases of monosomy X and caryotype 45,X, and 24 cases of the disorder with various forms of mosaicism are reported. The diagnostic significance of particular stigmata is underlined, and the possibility stressed to demonstrate a hidden pterygium colli by declining the patient's head laterally. Moreover, several peculiarities of individual cases are shown: In three girls with mosaicism, spontaneous puberty was observed, however, in two of them, it was followed by precocious menopause at the age of 14 and 18 years, respectively. The necessity of caryotyping in growth-retarded girls with secondary amenorrhoea or with a ren arcuatus or unilateral solitary kidney is emphasized. High values of urinary gonadotropins in girls without signs of puberty or with precocious menopause, indicate the need for substitution. This therapy leads to the appearence of secondary sex phenomena and menstruation, and at the same time prevents osteoporotic changes.
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Nat Genet
July 2024
MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Institute of Metabolic Science, Cambridge Biomedical Campus, Cambridge, UK.
Int J Surg Case Rep
April 2024
Department of Pediatric Surgery, Ali-Asghar Children Hospital, Iran University of Medical Sciences, Tehran, Iran.
Introduction: Although female victims of sexual child abuse present with symptoms such as local pain and vaginal bleeding, however, before any definitive diagnosis a comprehensive physical examination along with a detailed history related to vaginal bleeding should be taken from the patient. Undoubtedly, we must not forget that only one of the causes of vaginal bleeding is rape. Therefore, before making a final diagnosis, other causes of this symptom must be carefully examined.
View Article and Find Full Text PDFInt J Hyg Environ Health
March 2024
Department of Environmental Health Sciences, Graduate School of Public Health, Seoul National University, Seoul, 08826, Republic of Korea; Institute of Health & Environment, Seoul National University, Seoul, 08826, Republic of Korea. Electronic address:
Humans are exposed to metals in their daily lives and this metal exposure is responsible for various adverse health effects. Delayed pubertal development has been suggested as an adverse outcome of metal exposure; however, evidence in nationally representative populations, especially in Asia, is limited. We evaluated the association of blood cadmium (Cd), lead (Pb), and mercury (Hg) levels with the age at menarche in Korean females whose blood heavy metals were measured as part of the Korean National Health and Nutrition Examination Survey (KNHANES) 2008-2017.
View Article and Find Full Text PDFActa Biomed
December 2023
Department of Pediatrics, Hamad General Hospital, Doha, Qatar.
Background: The relationship between precocious or early puberty and its treatment has received significant research attention, yielding diverse outcomes. This short review aims to comprehensively analyze and summarize research articles to elucidate the potential link between precocious or early pubertal onset (CPP) and crucial health factors.
Methods: We conducted a systematic review of studies published from -January 2000 to March 2023, sourced from databases of Medline, PubMed, Google Scholar and Web of Science.
Int J Mol Sci
July 2023
Department of Anatomical, Histological, Forensic and Orthopedic Sciences, "Sapienza" University of Rome, 00161 Rome, Italy.
This review article explores the possibility of developing an integrated approach to the management of the different needs of endometrial cancer (EC) patients seeking to become pregnant. Life preservation of the woman, health preservation of the baby, a precocious and-as much as possible-minimally invasive characterization of the health and fertility parameters of the patient, together with the concerns regarding the obstetric, neonatal, and adult health risks of the children conceived via assisted reproductive techniques (ART) are all essential aspects of the problem to be taken into consideration, yet the possibility to harmonize such needs through a concerted and integrated approach is still very challenging. This review aims to illustrate the main features of EC and how it affects the normal physiology of pre-menopausal women.
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