Results 91 to 100 of about 4,313,479 (245)

Müllerian Duct Aplasia in a Girl With SMARCB1‐Related Coffin–Siris Syndrome: A Rare Co‐Occurring Anomaly

Clinical Genetics, EarlyView.
Genetic causes of Müllerian aplasia remain largely unknown. We report the first molecularly confirmed case of Coffin–Siris syndrome 3 caused by a de novo SMARCB1 variant presenting with Müllerian aplasia, supporting a potential association between BAF complex dysfunction and abnormal Müllerian duct development. Created in BioRender. Herlin, M. K. (2026)
Anneli C. S. Bolund, Esben Thyssen Vestergaard, Edvard Marinovskij, Dorte Launholt Lildballe, Jenny Blechingberg, Morten Krogh Herlin   +5 more
wiley   +1 more source

Menopause and comorbidity assessment in cisgender women living with HIV in Victoria: A clinic record review of women seen at three tertiary centres in Melbourne, Australia

HIV Medicine, EarlyView.
Abstract Background Data on women ageing with HIV in Australia are limited, particularly regarding those in midlife and experiencing menopause. The aim of this study is to describe the demographic characteristics of cisgender women living with HIV who attend the Alfred Hospital, Monash Medical Centre and Melbourne Sexual Health Centre for primary HIV ...
Anna B. Pierce, Sushena Krishnaswamy, Philip Rawson‐Harris, Wajeeha Fatima, Melanie Bissessor, Jennifer F. Hoy   +5 more
wiley   +1 more source

Prevalence of Menstrual Dysfunction and Hormonal Contraceptive Use Among Elite Female Athletes from Different Sports in Germany

Sports Medicine - Open
Background While a regular menstrual cycle is an indicator of good health, menstrual dysfunction (MD) and wrong beliefs regarding hormonal contraceptives (HC) are quite common among elite female athletes and threaten their health. This study aimed to (1)
Elisabeth M. Kirschbaum, Katharina Fischer, Dorothee Speiser, Franziska Lautenbach, Friedemann Schwenkreis, Anne Dathan-Stumpf, Kirsten Legerlotz   +6 more
doaj   +1 more source

Amenorrea primaria y disgerminoma en una paciente con disgenesia gonadal pura, reporte de caso

Revista Colombiana de Endocrinología, Diabetes y Metabolismo, 2017
La amenorrea primaria representa un reto diagnóstico para el médico general y especialista, dado que el espectro etiológico es amplio y se requiere de un adecuado enfoque para garantizar una correcta orientación terapéutica.
Diego Armando Guerrero Gómez, Yessica Agudelo Zapata, Hector Sandoval Alzate, Luis Maldonado Acosta, Juan Manuel Arteaga Díaz, Roberto Franco Vega   +5 more
doaj   +1 more source

Recent advances in polyendocrine metabolic ovarian syndrome, formerly polycystic ovary syndrome, with emphasis on endocrine and metabolic dysfunction and cardiovascular risk

Journal of Internal Medicine, EarlyView.
Abstract Polyendocrine metabolic ovarian syndrome (PMOS), previously known as polycystic ovary syndrome, affects 10%–13% of women of reproductive age and remains underdiagnosed despite its substantial health burden. The introduction of the new PMOS nomenclature in 2026 reflects a fundamental shift in understanding the condition as a lifelong endocrine ...
Maria Forslund, Johanna Melin, Anju E. Joham, Terhi T. Piltonen, D. Aled Rees, Helena J. Teede   +5 more
wiley   +1 more source

Primary amenorrhea and severe osteoporosis.

Nihon Naika Gakkai Zasshi, 2003
症例は30歳,女性,腰背部痛を主訴に受診.骨粗鬆症と同時に原発性無月経が判明.入院精査の結果,嗅覚異常を伴わない特発性視床下部性無月経と診断.骨粗鬆症は長期間エストロゲン低値に曝露されたことが原因と考えられた.退院後はより直接的な骨密度の改善を期待してエストロゲン補充療法を施行した.無月経による骨代謝への影響について示唆に富む症例であるので報告した.
Hayashi, Masayuki, Hayashi, Hiroko, Aoki, Yoshiaki, Tanaka, Hiroshi   +3 more
openaire   +3 more sources

Microvascular endothelial function is blunted in postmenopausal females with frequent hot flushes

Experimental Physiology, EarlyView.
Abstract Hot flushes of menopause are associated with elevated blood pressure (BP) and diminished macrovascular endothelial function, an initiating factor in the onset of atherosclerosis. Whether microvascular endothelial function is impaired in females with hot flushes, however, remains unknown.
William Stokes, Chowdhury Tasnova Tahsin, Miguel F. Anselmo, Stephany Nathe, Emma J. Lee, Soliana Teshome, Marnie L. Vanden Noven, Anne Blaes, Benjamin W. Langworthy, Manda L. Keller‐Ross   +9 more
wiley   +1 more source

Six weeks of high‐intensity interval training improve autonomic and metabolic responses in active postmenopausal women

Experimental Physiology, EarlyView.
Abstract This study analysed the effects of a supervised high‐intensity interval training (HIIT) programme on metabolic flexibility and autonomic function in active postmenopausal women. Twenty women (66.6 ± 6.2 years; 67.9 ± 11.1 kg) completed a 6‐week cycling HIIT intervention consisting of three weekly sessions (20 min/session).
Jordi Monferrer‐Marín, Ainoa Roldán, Jørn Wulff Helge, Cristina Blasco‐Lafarga   +3 more
wiley   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2181-2198, October 2026.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Primary Amenorrhea: A Müllerian Agenesis Case Report

, 2014
A case of müllerian agenesis, Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome, in a 16 year-old female with primary amenorrhea is reported. This patient exhibited normal female external physical characteristics with a shallow, blind vaginal pouch upon ...
Rebecca J. Caro, Dana R. Nguyen, Blake R. Busey, RJ Caro   +3 more
core   +1 more source