We report on two cases of female pseudohermaphroditism associated with anorectal, Müllerian duct, and urinary tract malformations. We suggest that this form of female pseudohermaphroditism is an extreme manifestation of the caudal type of VATER association.
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http://dx.doi.org/10.1159/000056860 | DOI Listing |
Endocrinol Diabetes Metab
January 2025
Division of Reproductive Endocrinology and Infertility, University of California, San Francisco, California, USA.
Context: Hyperandrogenism is a hallmark of polycystic ovary syndrome (PCOS), yet the androgen(s) responsible remain ambiguous. Recent studies have suggested that 11-oxygenated C steroids (11-oxyandrogens), specifically 11-ketotestosterone, may be a good marker for hyperandrogenism in PCOS.
Objective: To investigate the utility of 11-oxyandrogens to differentiate women with and without PCOS relative to classical androgens.
Neurogenetics
January 2025
Department of Otolaryngology & Head and Neck, Liuzhou Worker's Hospital of Guangxi Zhuang Autonomous Region, 156 Heping Road, Liuzhou, 545007, China.
Background: Mutations in the LARS2 gene are correlated with Perrault syndrome, a rare autosomal recessive genetic disorder, that is typically characterized by sensorineural hearing loss and ovarian insufficiency.
Methods: Whole-exome sequencing and mutational analysis were employed to identify hearing loss-causing genes in a Chinese family from the Guangxi Zhuang Autonomous Region. Clinical phenotypes, audiological data, and color Doppler ultrasound of the family were collected, and a series of computer software were used to analyze the impact of genetic variations on protein structure and function.
Calcif Tissue Int
January 2025
Department of Medicine, Surgery and Neurosciences, University of Siena, Policlinico Santa Maria Alle Scotte, Siena, Italy.
Front Endocrinol (Lausanne)
December 2024
Department of Gynecology and Obstetrics, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi, China.
Objective: Polycystic ovary syndrome (PCOS) is an important factor contributing to infertility in reproductive-aged women. Hyperandrogenism (HA) plays an important role in the pathogenesis of PCOS. This study was conducted to explore the follicular development and endometrial receptivity of different androgen phenotypes in reproductive-aged patients with PCOS.
View Article and Find Full Text PDFBackground And Objectives: Polycystic ovary syndrome (PCOS) is a prevalent female reproductive and metabolic disorder. Among patients with chronic conditions, an increasing number have approached complementary and alternative medicine (CAM) to cope with their disease. This study aimed to assess the use of CAM among females with PCOS in Jordan.
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