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Background: Deficiency of 17β-hydroxysteroid dehydrogenase type 3 (HSD17B3) is a rare variant of 46,XY disorders of sex development (DSD).
Aim: To give clinical, hormonal and molecular genetic characteristics of cases of 46,XY DSD associated with variants in the HSD17B3 gene.
Materials And Methods: The study included 310 patients with 46,XY DSD for the period from 2015 to 2019.
Family functioning in adolescents and young adults with differences of sex development.
J Pediatr Psychol
January 2025
Department of Psychiatry & Behavioral Sciences, Northwestern University Feinberg School of Medicine, Chicago, IL, United States.
Objective: Family functioning influences various psychosocial outcomes for individuals with pediatric chronic health conditions (e.g., Leeman, J.
View Article and Find Full Text PDFIncreased Oxidative and Nitrative Stress and Decreased Sex Steroid Relaxation in a Vitamin D-Deficient Hyperandrogenic Rodent Model-And a Validation of the Polycystic Ovary Syndrome Model.
Nutrients
January 2025
Department of Obstetrics and Gynaecology, Semmelweis University, Üllői Street 78/a, 1082 Budapest, Hungary.
Background/objectives: Both hyperandrogenism (HA) and vitamin D deficiency (VDD) can separately lead to impaired vascular reactivity and ovulatory dysfunction in fertile females. The aim was to examine the early interactions of these states in a rat model of PCOS.
Methods: Four-week-old adolescent female rats were divided into four groups: vitamin D (VD)-supplemented ( = 12); VD-supplemented and testosterone-treated ( = 12); VDD- ( = 11) and VDD-and-testosterone-treated ( = 11).
Nationwide carrier screening for congenital adrenal hyperplasia: integrated approach of CYP21A2 pathogenic variant genotyping and comprehensive large gene deletion analysis.
BMC Med Genomics
January 2025
Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, 10400, Thailand.
Background: Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD CAH) is an autosomal recessive disorder resulting from pathogenic variants in the CYP21A2 gene. The disorder exhibits variable clinical severity, with the classical form manifesting as salt-wasting crisis in neonates, while inducing ambiguous genitalia in females and precocious puberty in males through simple virilization. Identifying at-risk couples during the preconception stage holds significance for optimizing reproductive choices.
View Article and Find Full Text PDFPioneering robotic-assisted Davydov vaginoplasty for Mayer-Rokitansky-Küster-Hauser syndrome.
BMJ Case Rep
January 2025
Obstetrics and Gynaecology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder marked by the congenital absence of the uterus and vagina. Patients with this condition often present with primary amenorrhoea and normal secondary sexual characteristics. The diagnosis of MRKH syndrome has profound implications for a patient's fertility and psychological well-being, necessitating a multidisciplinary approach that includes psychosocial support.
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