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A Novel Homozygous Mutation Causes Ovarian Dysgenesis and Primary Amenorrhea.
J Endocr Soc
January 2025
Division of Pediatric Endocrinology, Hadassah Medical Center, Jerusalem 91240, Israel.
Context: Despite a growing number of studies, the genetic etiology in many cases of ovarian dysgenesis is incompletely understood.
Objectives: This work aimed to study the genetic etiology causing absence of spontaneous pubertal development, hypergonadotropic hypogonadism, and primary amenorrhea in 2 sisters.
Methods: Whole-exome sequencing was performed on DNA extracted from peripheral lymphocytes of 2 Palestinian sisters born to consanguineous parents.
Pioneering 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.
View Article and Find Full Text PDFPrioritising gynaecological care in post-haematopoietic stem cell transplant patients.
BMJ Case Rep
January 2025
Reproductive Medicine and Surgery, Sri Ramachandra Medical College and Research Institute, Chennai, Tamil Nadu, India.
An adolescent girl with acute myeloid leukaemia underwent chemotherapy followed by haematopoietic stem cell transplantation (HSCT). Post-HSCT, she developed oral chronic graft-versus-host disease (cGvHD), which was successfully treated. Twenty months later, she was referred to the gynaecology department for evaluation of secondary amenorrhoea.
View Article and Find Full Text PDFBilateral Ovarian Agenesis and Bone Modeling Disease in Pre-puberty Girl With Primary Amenorrhea.
Cureus
December 2024
Department of Obstetrics and Gynecology, Royal Medical Services, Amman, JOR.
Ovarian agenesis (OA) is a rare congenital condition characterized by the absence of one or both ovaries, often associated with chromosomal abnormalities, hormonal imbalances, and structural deformities. The condition is frequently diagnosed in females presenting with primary amenorrhea and delayed sexual development. This case report highlights a unique presentation of bilateral ovarian agenesis in a patient with chromosome X translocation, bone modeling disease, and primary amenorrhea.
View Article and Find Full Text PDFUnderstanding the perceptions and reactions to a monthly oral contraceptive capsule with end users and healthcare providers in Bangladesh, Senegal, and Zimbabwe.
Front Glob Womens Health
December 2024
Trisha Wood Santos Consulting, LLC, Seattle, WA, United States.
Introduction: Unintended pregnancy is a global public health challenge. Many contraceptive methods are available to end users, but non-use and discontinuation due to health concerns or side effects, particularly related to unpredictable or undesirable menstrual bleeding, are common. Oral contraceptive pills (OCPs) often have regular bleeding patterns compared to other hormonal contraceptives but require daily adherence.
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