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Novel compound heterozygous CYP17A1 mutations identified in a family with two siblings affected by 17α-hydroxylase/17,20-lyase deficiency.
Steroids
January 2025
Department of Endocrinology, Sir Run Run Hospital, Nanjing Medical University, Nanjing, Jiangsu, China. Electronic address:
Background: 17α-Hydroxylase/17,20-lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia (CAH), caused by mutations in the CYP17A1 gene. It typically manifests clinically as variable degree of hypertension, hypokalemia, and disorders of sexual development (DSD), which can include abnormal sexual differentiation in males and sexual infantilism in females. Over 100 mutations in CYP17A1 have been identified, with most cases involving missense mutations or small deletions.
View Article and Find Full Text PDFSuccessful laparoscopic cytoreductive surgery for multiple (three) advanced recurrences of AGCT in a young woman. A case report.
Int J Surg Case Rep
January 2025
Department of Medical Sciences and Public Health, University of Cagliari, SS 554, km 4,500, 09042 Monserrato, Italy.
Introduction And Importance: Debulking surgery is the main approach for recurrent adult granulosa cell tumors (AGCTs), but the effectiveness of laparoscopic extensive cytoreduction in advanced cases and its impact on quality of life (QoL) remains unclear.
Case Presentation: A 34-year-old woman, who had a right adnexectomy for AGCT in 2020, was referred with an 8-month history of a large left ovarian cyst and amenorrhea. Preoperative evaluations indicated a recurrence 18 months post-diagnosis.
Amenorrhea is a common symptom of a whole range of nosologies among women of reproductive age, which can accompany any endocrinopathy in the stage of decompensation. In all the diversity of various links in the pathogenesis of reproductive disorders, the problem of immunopathology remains a little aside, however, the significance of these disorders is underestimated. This publication provides an overview of immune system abnormalities in a women with amenorrhea.
View Article and Find Full Text PDFPanhypopituitarism in Neurosarcoidosis: Pituitary-Hypothalamic Involvement Successfully Managed With Rituximab.
JCEM Case Rep
February 2025
Neurosurgery Service, Specialty Hospital of the National Medical Center Siglo XXI, Mexican Social Security Institute, Mexico City 06720, Mexico.
Neurosarcoidosis (NS) is a rare form of sarcoidosis, with isolated hypothalamic-pituitary involvement being exceptionally uncommon. We report a 20-year-old woman presenting with polyuria, galactorrhea, amenorrhea, and substantial weight loss. Hormonal evaluation revealed hypopituitarism with arginine-vasopressin deficiency and hyperprolactinemia.
View Article and Find Full Text PDFClinical effectiveness of progestogens compared to combined oral contraceptive pills in the treatment of endometriosis: A systematic review and meta-analysis.
Eur J Obstet Gynecol Reprod Biol
January 2025
Faculty of Medical Sciences of Minas Gerais Belo Horizonte Brazil.
Objective: Endometriosis involves the growth of endometrium-like cells outside the uterus, affecting reproductive-aged women. Symptoms such as dysmenorrhea, pelvic pain, and infertility significantly impair quality of life. Among therapeutic options, progestogens have demonstrated efficacy in managing pain and reducing recurrence rates.
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