Review
Oncology
Na Chen, Shuang Song, Xinmiao Bao, Lan Zhu
Summary: This review provides an update on the etiology, clinical manifestations, diagnosis, psychological impact, treatment, and reproductive options for Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. The underlying causes of MRKH syndrome remain unclear, with both genetic and non-genetic factors proposed. The syndrome has a significant psychological impact on patients, leading to low self-esteem, poor coping strategies, and symptoms of depression and anxiety. Psychological counseling and peer support are recommended for diagnosed patients. Vaginal dilation is the first-line therapy, with vaginal reconstruction as the second-line option for those who do not respond to dilation. Uterine transplantation and gestational surrogacy are potential options for women with MRKH syndrome to achieve biological motherhood.
FRONTIERS OF MEDICINE
(2022)
Review
Endocrinology & Metabolism
Zhenyan Pan, Fangfang Zhu, Kai Zhou
Summary: Anogenital distance (AGD) reflects androgen exposure during gestational weeks 8-14 and has been linked to endocrine-disrupting compounds. Studies show that PCOS patients tend to have longer AGD, while endometriosis patients tend to have shorter AGD. Further well-designed studies are needed to confirm these findings.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Review
Physiology
Too Lih Yuan, Nadiah Sulaiman, Abdul Ghani Nur Azurah, Manira Maarof, Muhammad Dain Yazid
Summary: This review assesses the impact of various factors on estrogen-mediated epithelial-mesenchymal transition in female reproductive tract diseases, particularly endometriosis. The results suggest that epithelial-mesenchymal transition is a major cause of reproductive-related diseases, potentially mediated by estrogen and Wnt4 aberration.
FRONTIERS IN PHYSIOLOGY
(2022)
Article
Obstetrics & Gynecology
Nicole Fischer, Helen Xun, Amy Lossie, Darya Fadavi, Halley Darrach, Pooja Yesantharao, Franca Kraenzlin, Bhuchitra Singh, Justin M. Sacks, James H. Segars
Summary: The study found that most individuals with MRKH syndrome believe that uterine transplantation should be an option for all women with uterine factor infertility and should be covered by health insurance. Many participants perceived the benefits of the procedure to outweigh the risks and considered it to be an ethical procedure.
FERTILITY AND STERILITY
(2021)
Article
Medicine, General & Internal
Rebecca Buchert, Elisabeth Schenk, Thomas Hentrich, Nico Weber, Katharina Rall, Marc Sturm, Oliver Kohlbacher, Andre Koch, Olaf Riess, Sara Y. Brucker, Julia M. Schulze-Hentrich
Summary: By analyzing the genetic material of discordant monozygotic twins with MRKH, potential genetic causes were identified. The study revealed the involvement of estrogen in the pathology of MRKH, although no clear pathogenic differences were detected.
JOURNAL OF CLINICAL MEDICINE
(2022)
Review
Evolutionary Biology
Natalie L. Dinsdale, Bernard J. Crespi
Summary: Evolutionary and comparative approaches can provide new insights into human adaptation and disease. The study proposes the diametric disorder hypothesis between endometriosis and PCOS, with support from diverse fields of research. Findings suggest that PCOS and endometriosis represent maladaptive extremes of female life-history variation and expression of sexually dimorphic female reproductive traits.
EVOLUTIONARY APPLICATIONS
(2021)
Article
Medicine, General & Internal
Sahra Steinmacher, Hans Boesmueller, Massimo Granai, Andre Koch, Sara Yvonne Brucker, Kristin Katharina Rall
Summary: This study examines the histopathological and immunohistochemical characteristics of uterine remnants and endometriotic lesions in patients with MRKH syndrome compared to patients with endometriosis. The results show distinct differences between the two groups, suggesting a possible explanation for the etiology of endometriosis.
JOURNAL OF CLINICAL MEDICINE
(2022)
Review
Reproductive Biology
Reeta Mahey, Anubhuti Rana, Rohitha Cheluvaraju, Surabhi Vyas, Ritu Raj, Neerja Bhatla
Summary: This is a rare case of Mullerian agenesis and Turner mosaic syndrome with tubo-ovarian inguinal hernia. The patient underwent laparoscopic hernia repair and repositioning of the left ovary, and had a stable post-operative course. The case highlights the importance of complete evaluation before any medical or surgical intervention.
JOURNAL OF OVARIAN RESEARCH
(2023)
Article
Obstetrics & Gynecology
Na Chen, Hongxin Pan, Guangnan Luo, Ping Wang, Zhenwei Xie, Keqin Hua, Xiping Luo, Xianghua Huang, Qing Liu, Liying Sun, Weiping Hu, Guangshi Tao, Sen Zhao, Nan Wu, Lan Zhu
Summary: The study revealed the proportion of concomitant extragenital malformations in Chinese patients with MRKH syndrome, finding that skeletal malformations were more common than renal malformations in this cohort.
FERTILITY AND STERILITY
(2021)
Review
Medicine, General & Internal
Yifei Dai, Chenglu Qin, Linling Zhu, Guangnan Luo
Summary: MRKH syndrome with genital inguinal hernia is rare and often underreported. This article presents 3 cases of this syndrome and highlights the importance of accurate diagnosis.
Article
Obstetrics & Gynecology
Christine M. Pennesi, Emily M. English, Sarah Bell, Amy C. Lossie, Elisabeth H. Quint, Carolyn W. Swenson
Summary: Mayer-Rokitansky-Kuster-Hauser syndrome, a rare condition, is associated with common urinary, prolapse, and bowel symptoms. Vaginal lengthening treatments do not significantly affect the prevalence of pelvic floor symptoms, except for recent urinary and anal incontinence. Further research is needed to understand the impact of different vaginal lengthening treatments on pelvic floor symptoms.
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
(2021)
Editorial Material
Obstetrics & Gynecology
Mykhailo Medvediev, Dmytro Spesyvtsev, Dar'ya Pokrovenko
Summary: This study presented a novel approach to vaginoplasty in a patient with vaginal aplasia and a preserved cervix. The surgical procedure successfully restored normal vaginal anatomy and function, with the patient experiencing no postoperative complications and engaging in sexual activity during the follow-up period. The approach of cervicovulvar anastomosis was found to be more feasible in cases of preserved distended cervix, leading to better outcomes compared to traditional techniques.
FERTILITY AND STERILITY
(2021)
Review
Obstetrics & Gynecology
Francesco Fedele, Alessandro Bulfoni, Stefano Salvatore, Massimo Candiani
Summary: The MRKH syndrome is the most common cause of uterine aplasia, with legal adoption being the only option until recently. Now gestational surrogacy (GS) and uterine transplantation (UTx) are new fertility options, with UTx facing challenges due to complexity and necessary immunologic therapies.
CLINICAL AND EXPERIMENTAL OBSTETRICS & GYNECOLOGY
(2021)
Article
Genetics & Heredity
Congcong Ma, Na Chen, Angad Jolly, Sen Zhao, Zeynep Coban-Akdemir, Weijie Tian, Jia Kang, Yang Ye, Yuan Wang, Andre Koch, Yuanqiang Zhang, Chenglu Qin, Ximena Bonilla, Christelle Borel, Katharina Rall, Zefu Chen, Shalini Jhangiani, Yuchen Niu, Xiaoxin Li, Guixing Qiu, Shuyang Zhang, Guangnan Luo, Zhihong Wu, Flora Bacopoulou, Efthymios Deligeoroglou, Terry Jianguo Zhang, Carla Rosenberg, Richard A. Gibbs, Jennifer E. Dietrich, Antigone S. Dimas, Pengfei Liu, Stylianos E. Antonarakis, Sara Y. Brucker, Jennifer E. Posey, James R. Lupski, Nan Wu, Lan Zhu
Summary: Rare variants in TBX6 have been identified in MRKHS patients, and some of these variants can result in loss of TBX6 function, further supporting the pathogenic role of TBX6 in MRKHS.
GENETICS IN MEDICINE
(2022)
Review
Biology
Isaac Kyei-Barffour, Miranda Margetts, Alla Vash-Margita, Emanuele Pelosi
Summary: MRKH syndrome is a disorder caused by Mullerian ducts dysgenesis affecting women with a typical karyotype. The etiology is complex and largely unexplained, with possible genetic and epigenetic factors involved. Understanding the molecular mechanisms and improving clinical management remains a challenge due to limited research in functional validation and translational studies.
YALE JOURNAL OF BIOLOGY AND MEDICINE
(2021)
Article
Endocrinology & Metabolism
Mirte R. Caanen, Henrike E. Peters, Peter M. van de Ven, Anne M. F. M. Juttner, Joop S. E. Laven, Marcel H. A. van Hooff, Cornelis B. Lambalk
Summary: The study found that higher AMH levels in adolescence were associated with a higher risk of developing PCOS in adulthood for girls with oligomenorrhea. However, adolescent AMH levels alone or in combination with menstrual irregularities were not effective in predicting adult PCOS, and therefore routine use in clinical practice is not recommended.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Oncology
Roxanne Roshandel, Marloes van Dijk, Annelies Overbeek, Gertjan Kaspers, Cornelis Lambalk, Catharina Beerendonk, Dorine Bresters, Margriet van der Heiden-van der Loo, Marry van den Heuvel-Eibrink, Leontien Kremer, Jacqueline Loonen, Helena van der Pal, Cecile Ronckers, Wim Tissing, Birgitta Versluys, Flora van Leeuwen, Marleen van den Berg, Eline van Dulmen-den Broeder
Summary: Reproductive function of childhood ALL survivors treated with chemotherapy alone is similar to controls, while survivors additionally treated with radiotherapy are at increased risk of certain adverse reproductive outcomes. Personalized counseling about reproductive health risks is important for this group.
PEDIATRIC BLOOD & CANCER
(2021)
Article
Obstetrics & Gynecology
Essam R. Othman, Ahmad Abo Markeb, Maha Y. Khashbah, Ibrahim I. Abdelaal, Tarek T. ElMelegy, Ahmed N. Fetih, Lisette E. Van der Houwen, Cornelis B. Lambalk, Velja Mijatovic
Summary: The study found that endometriosis patients' eutopic endometrial tissue contained higher levels of certain estrogen metabolites, and the concentration of one metabolite was also higher in urine. This suggests that endometriosis patients preferentially metabolize estrogen through specific pathways.
REPRODUCTIVE SCIENCES
(2021)
Editorial Material
Obstetrics & Gynecology
M. Van Wely, K. Kirkegaard, C. De Geyter, C. B. Lambalk
HUMAN REPRODUCTION
(2021)
Review
Endocrinology & Metabolism
Annelien C. de Kat, Frank J. M. Broekmans, Cornelis B. Lambalk
Summary: AMH, produced by small antral follicles, has evolved as a potential marker of follicle number in human ovaries. While related to age at menopause, AMH is insufficient to accurately guide an individual's journey of ovarian aging.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Oncology
M. E. Madeleine van der Perk, Linda Broer, Yutaka Yasui, Leslie L. Robison, Melissa M. Hudson, Joop S. E. Laven, Helena J. van der Pal, Wim J. E. Tissing, Birgitta Versluys, Dorine Bresters, Gertjan J. L. Kaspers, Andrica C. H. de Vries, Cornelis B. Lambalk, Annelies Overbeek, Jacqueline J. Loonen, Catharina C. M. Beerendonk, Julianne Byrne, Claire Berger, Eva Clemens, Uta Dirksen, Jeanette Falck Winther, Sophie D. Fossa, Desiree Grabow, Monica Muraca, Melanie Kaiser, Tomas Kepak, Jarmila Kruseova, Dalit Modan-Moses, Claudia Spix, Oliver Zolk, Peter Kaatsch, Jesse H. Krijthe, Leontien C. M. Kremer, Russell J. Brooke, Jessica L. Baedke, Ron H. N. van Schaik, John N. van den Anker, Andre G. Uitterlinden, Annelies M. E. Bos, Flora E. van Leeuwen, Eline Van Dulmen-den Broeder, Anne-Lotte L. F. Van der Kooi, Marry M. Van den Heuvel-Eibrink
Summary: In this study, genetic variations in CYP3A4 and CYP2B6 enzymes were found to have significant impact on chemotherapy-induced gonadotoxicity in female childhood cancer survivors receiving alkylating agents. CYP3A4*3 variant was associated with lower AMH levels, while CYP2B6*2 variant showed a protective effect on AMH levels. Identification of these risk-contributing genetic variants may help improve personalized counseling on infertility risks and fertility preservation options for patients.
Article
Obstetrics & Gynecology
A. M. F. Schreurs, M. C. Lier, D. B. M. Koning, C. W. A. Brals, M. A. De Boer, C. B. Lambalk, M. De Wit, V Mijatovic
Summary: Spontaneous Haemoperitoneum in Pregnancy (SHiP) is a rare but life-threatening complication that has a profound impact on women and their partners, leading to lower quality of life and psychological distress. It is important for women who have experienced SHiP to receive dedicated psychological support.
FACTS VIEWS AND VISION IN OBGYN
(2021)
Article
Obstetrics & Gynecology
N. E. van Hoogenhuijze, R. van Eekelen, F. Mol, I Schipper, E. R. Groenewoud, M. A. F. Traas, C. A. H. Janssen, G. Teklenburg, J. P. de Bruin, R. H. F. van Oppenraaij, J. W. M. Maas, E. Moll, K. Fleischer, M. H. A. van Hooff, C. H. de Koning, A. E. P. Cantineau, C. B. Lambalk, M. Verberg, A. M. van Heusden, A. P. Manger, M. M. E. van Rumste, L. F. van der Voet, Q. D. Pieterse, J. Visser, E. A. Brinkhuis, J. E. den Hartog, M. W. Glas, N. F. Klijn, M. van der Zanden, M. L. Bandell, J. C. Boxmeer, J. van Disseldorp, J. Smeenk, M. van Wely, M. J. C. Eijkemans, H. L. Torrance, F. J. M. Broekmans
Summary: Endometrial scratch prior to the second fresh IVF/ICSI treatment may increase live birth rate, but comes with higher costs and uncertainty in effectiveness.
HUMAN REPRODUCTION
(2022)
Editorial Material
Obstetrics & Gynecology
Cornelis (Nils) Lambalk
HUMAN REPRODUCTION
(2022)
Article
Obstetrics & Gynecology
Nienke van Welie, Joukje van Rijswijk, Kim Dreyer, Machiel H. A. van Hooff, Jan Peter de Bruin, Harold R. Verhoeve, Femke Mol, Wilhelmina M. van Baal, Maaike A. F. Traas, Arno M. van Peperstraten, Arentje P. Manger, Judith Gianotten, Cornelia H. de Koning, Aafke M. H. Koning, Neriman Bayram, David P. van der Ham, Francisca P. J. M. Vrouenraets, Michaela Kalafusova, Bob I. G. van de Laar, Jeroen Kaijser, Arjon F. Lambeek, Wouter J. Meijer, Frank J. M. Broekmans, Olivier Valkenburg, Lucy F. van der Voet, Jeroen van Disseldorp, Marieke J. Lambers, Rachel Tros, Cornelis B. Lambalk, Jaap Stoker, Madelon van Wely, Patrick M. M. Bossuyt, Ben Willem J. Mol, Velja Mijatovic
Summary: HyFoSy and HSG produce similar findings in a majority of patients and clinical management based on the results of either HyFoSy or HSG leads to comparable pregnancy outcomes. HyFoSy is experienced as significantly less painful.
HUMAN REPRODUCTION
(2022)
Article
Public, Environmental & Occupational Health
K. Rosielle, D. Kamphuis, N. van Welie, I. Roest, A. Mozes, E. J. P. van Santbrink, T. van de Laar, A. B. Hooker, A. G. Huppelschoten, W. Li, M. Y. Bongers, J. Stoker, M. van Wely, C. Koks, C. B. Lambalk, A. Hemingway, B. W. J. Mol, K. Dreyer, V. Mijatovic
Summary: This study aims to compare the fertility-enhancing effect and cost-effectiveness of using oil-based contrast and water-based contrast during hysterosalpingography in women of advanced age, women with ovulatory disorders, and women with a high risk for tubal pathology.
Article
Obstetrics & Gynecology
Eva M. E. Balkenende, Taghride Dahhan, Catharina C. M. Beerendonk, Kathrin Fleischer, Dominic Stoop, Annelies M. E. Bos, Cornelis B. Lambalk, Roel Schats, Jesper M. J. Smeenk, Leonie A. Louwe, Astrid E. P. Cantineau, Jan Peter de Bruin, Sabine C. Linn, Fulco van der Veen, Madelon van Wely, Mariette Goddijn
Summary: Alternative ovarian stimulation protocols with tamoxifen or letrozole did not affect the number of cumulus-oocyte complexes (COCs) retrieved at follicle aspiration in women with breast cancer.
HUMAN REPRODUCTION
(2022)
Article
Obstetrics & Gynecology
J. A. Wessel, M. H. Mochtar, D. E. Besselink, H. Betjes, J. P. de Bruin, A. E. P. Cantineau, E. R. Groenewoud, A. B. Hooker, C. B. Lambalk, J. Kwee, E. M. Kaaijk, L. A. Louwe, J. W. M. Maas, B. W. J. Mol, M. M. E. van Rumste, M. A. F. Traas, M. Goddijn, M. van Wely, F. Mol
Summary: In couples with unexplained subfertility and a poor prognosis for natural conception, expectant management (EM) for 6 months is inferior to IUI with ovarian stimulation (IUI-OS) in terms of live births.
HUMAN REPRODUCTION
(2022)
Article
Obstetrics & Gynecology
C. H. Statema-Lohmeijer, R. Schats, B. Lissenberg-Witte, E. H. Kostelijk, C. B. Lambalk, C. G. Vergouw
Summary: Does a shorter interval between semen collection and IUI increase the chance of ongoing pregnancy? A long interval resulted in a significant improvement in cumulative ongoing pregnancies and a shorter time to pregnancy.
HUMAN REPRODUCTION
(2023)
Article
Obstetrics & Gynecology
Felicia Dreischor, Ellen T. M. Laan, Fleur Peeters, Karen Peeraer, Cornelis B. Lambalk, Mariette Goddijn, Inge M. Custers, Eline A. F. Dancet
Summary: Couples hope for fertility clinic staff to incorporate expectant management into the clinic trajectory, interact with both partners, and provide advice on common peer experiences, lifestyle management, distress, and sexual challenges.
HUMAN REPRODUCTION OPEN
(2022)