Review
Endocrinology & Metabolism
Jiaojiao Cheng, Xiangyan Ruan, Juan Du, Fengyu Jin, Muqing Gu, Alfred Mueck, Yurui O. Wu
Summary: The case report highlighted the importance of early evaluation for fertility preservation in TS patients and suggested OTC as a reasonable option for highly selected young females with mosaic TS, as long as endocrine evaluation does not indicate POI and other health problems do not rule out future pregnancy.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Obstetrics & Gynecology
Sapthami Nadesapillai, Janielle van der Velden, Sanne van der Coelen, Myra Schleedoorn, Amy Sedney, Marian Spath, Maarten Schurink, Anke Oerlemans, Joanna Inthout, Ina Beerendonk, Didi Braat, Ronald Peek, Kathrin Fleischer
Summary: This study aimed to evaluate which girls with Turner syndrome (TS) could benefit from ovarian tissue cryopreservation. The study found that having a 46,XX cell line, spontaneous onset of puberty, or a combination of measurable AMH and normal follicle-stimulating hormone levels were favorable predictive markers for the presence of follicles.
FERTILITY AND STERILITY
(2023)
Review
Obstetrics & Gynecology
L. Cacciottola, J. Donnez, M. M. Dolmans
Summary: Gonadotoxic treatments like chemotherapy or radiotherapy and ovarian surgery can lead to premature ovarian insufficiency. Cryopreservation of oocytes and ovarian tissue shows promising results in terms of pregnancy and live birth rates. Ovarian tissue transplantation is a potential future option for complete restoration of ovarian function.
BEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY
(2022)
Article
Obstetrics & Gynecology
Sapthami Nadesapillai, Sanne van der Coelen, Lianne Goebel, Ronald Peek, Didi D. M. Braat, Janielle A. E. M. van der Velden, Kathrin Fleischer, Anke J. M. Oerlemans
Summary: This study examined the considerations of girls with Turner syndrome and their parents in choosing or not choosing ovarian tissue cryopreservation (OTC). The findings showed that the decision to opt for OTC was influenced by hope for future fertility, the opportunity to have genetic offspring, and clarity about current fertility status. However, families also had concerns and uncertainties due to the lack of information on the success rate and long-term consequences of OTC. Sharing experiences and providing more guidance can improve fertility-preservation counselling for girls with Turner syndrome and their parents.
REPRODUCTIVE BIOMEDICINE ONLINE
(2023)
Article
Biochemistry & Molecular Biology
Wei Liu, Jing Zhang, Lu Wang, Shenglian Liang, Boqun Xu, Xiaoyan Ying, Jing Li
Summary: The pretreatment of rapamycin before vitrification has been shown to effectively inhibit the activation of the mTOR signaling pathway, increase follicle survival rate, reduce apoptosis, and promote ovarian survival during the process of ovarian tissue cryopreservation and transplantation, demonstrating important clinical implications.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2021)
Article
Obstetrics & Gynecology
Sapthami Nadesapillai, Janielle van der Velden, Dominique Smeets, Guillaume van de Zande, Didi Braat, Kathrin Fleischer, Ronald Peek
Summary: This case report describes a young girl initially diagnosed with exclusively 45,X Turner syndrome, but with a cryptic mosaicism in the ovaries. Despite the presence of normal oocytes, the study found that all analyzed follicles contained exclusively 45,X granulosa cells embedded in mosaic 45,X/47,XXX stromal tissue, which may have functional consequences for follicular development.
FERTILITY AND STERILITY
(2021)
Article
Endocrinology & Metabolism
Marcos Eiji Shiroma, Luciana Lamarao Damous, Fernanda Pereira Cotrim, Cristiane Lima Roa, Jose Cipolla-Neto, Russel Joseph Reiter, Edmund Chada Baracat, Jose Maria Soares Jr
Summary: Melatonin pretreatment improves the quality of rat ovarian grafts by promoting the restart of the estrous cycle, increasing the expression of various key proteins in the ovaries, and reducing apoptosis levels. Further studies on reproductive function enhancement are warranted based on these findings.
REPRODUCTIVE BIOLOGY AND ENDOCRINOLOGY
(2021)
Article
Genetics & Heredity
C. E. Dunlop, S. A. Jack, E. E. Telfer, S. Zahra, R. A. Anderson
Summary: Turner syndrome (TS) leads to a characteristic phenotype of premature ovarian insufficiency and infertility. Ovarian tissue cryopreservation (OTC) has been shown to be a successful method for fertility preservation in TS patients, and we report the first clinical pregnancy in a TS patient following the re-implantation of cryopreserved ovarian tissue.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2023)
Review
Obstetrics & Gynecology
Hajra Khattak, Rosamund Malhas, Laurentiu Craciunas, Yousri Afifi, Christiani A. Amorim, Simon Fishel, Sherman Silber, Debra Gook, Isabelle Demeestere, Olga Bystrova, Alla Lisyanskaya, Georgy Manikhas, Laura Lotz, Ralf Dittrich, Lotte Berdiin Colmorn, Kirsten Tryde Macklon, Ina Marie Dueholm Hjorth, Stine Gry Kristensen, Ioannis Gallos, Arri Coomarasamy
Summary: Ovarian tissue cryopreservation and transplantation techniques have evolved over the past two decades with the aim of restoring fertility and hormonal function in women. Although evidence of success is largely based on case reports, studies demonstrate that this technology can restore reproductive and hormonal functions in women.
HUMAN REPRODUCTION UPDATE
(2022)
Article
Obstetrics & Gynecology
Kathleen Duffin, Ruth Howie, Tom W. Kelsey, Hamish B. Wallace, Richard A. Anderson
Summary: The Edinburgh Selection Criteria accurately identify female cancer patients under the age of 18 who are at risk of premature ovarian insufficiency (POI) and can be candidates for ovarian tissue cryopreservation (OTC). Long-term follow-up is necessary to ensure the appropriate use of OTC, as it is not without risk.
HUMAN REPRODUCTION
(2023)
Article
Endocrinology & Metabolism
Kenny A. A. Rodriguez-Wallberg, Fotios Sergouniotis, Hanna P. P. Nilsson, Frida E. E. Lundberg
Summary: By studying the infertility risks of Turner syndrome patients and providing appropriate fertility preservation counseling, the chances of fertility preservation can be improved.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Editorial Material
Obstetrics & Gynecology
Alla Vash-Margita, Katarzyna Szymanska-Vandendriessche, Kathryn Gunther, David F. Rodriguez-Buritica, Emily Christison-Lagay, Saurabh Saluja, Kutluk H. Oktay
Summary: This article describes an approach to fertility preservation through ovarian tissue harvesting and cryopreservation for a toddler with galactosemia. The authors highlight the importance of intervention for early preservation of fertility in patients with progressive primary ovarian insufficiency associated with galactosemia. A multidisciplinary team is involved in the procedure, including reproductive endocrinology and infertility specialists, pediatric gynecologists and surgeons, and genetics experts.
FERTILITY AND STERILITY
(2022)
Article
Obstetrics & Gynecology
Lorraine S. Kasaven, Srdjan Saso, Natalie Getreu, Helen O'Neill, Timothy Bracewell-Milnes, Fevzi Shakir, Joseph Yazbek, Meen-Yau Thum, James Nicopoullos, Jara Ben Nagi, Paul Hardiman, Cesar Diaz-Garcia, Benjamin P. Jones
Summary: Age-related fertility decline is a prevalent concern in western cultures due to the increasing age of first-time motherhood. Elective oocyte and embryo cryopreservation are established methods of fertility preservation, but the alternative option of elective ovarian cortex cryopreservation has not been considered in this context.
HUMAN REPRODUCTION
(2022)
Review
Obstetrics & Gynecology
Brid Ni Dhonnabhain, Nagla Elfaki, Kyra Fraser, Aviva Petrie, Benjamin P. Jones, Srdjan Saso, Paul J. Hardiman, Natalie Getreu
Summary: This study compares obstetric outcomes in cancer patients who undergo cryopreservation of reproductive cells or tissues before gonadotoxic therapy. The results indicate that cryopreservation of oocytes, embryos, and ovarian tissue has similar effectiveness in terms of clinical pregnancy and live birth rates. However, ovarian tissue cryopreservation is associated with a significantly lower miscarriage rate compared to embryo cryopreservation.
FERTILITY AND STERILITY
(2022)
Article
Obstetrics & Gynecology
Ronald Peek, Sapthami Nadesapillai, Thu Yen Thi Nguyen, Sarah Vassart, Dominique Smeets, Guillaume van de Zande, Alessandra Camboni, Didi Braat, Janielle van der Velden, Jacques Donnez, Kathrin Fleischer, Marie-Madeleine Dolmans
Summary: The impact of aneuploid granulosa and stromal cells on folliculogenesis of small ovarian follicles from patients with mosaic Turner syndrome (TS) was studied using a murine xenograft model. It was found that despite the presence of aneuploid cells, small follicles from TS patients were able to undergo normal development, suggesting that ovarian tissue cryopreservation could be a valid option to preserve fertility in young TS patients, especially before the age of 12.
FERTILITY AND STERILITY
(2023)
Article
Endocrinology & Metabolism
Mariska A. M. Schroder, Antonius E. van Herwaarden, Paul N. Span, Erica L. T. van den Akker, Gianni Bocca, Sabine E. Hannema, Hetty J. van Der Kamp, Sandra W. K. de Kort, Christiaan F. Mooij, Dina A. Schott, Saartje Straetemans, Vera van Tellingen, Janielle A. van der Velden, Fred C. G. J. Sweep, Hedi L. Claahsen-van der Grinten
Summary: This study compared two standard hydrocortisone timing strategies in young patients with 21-hydroxylase deficiency, either highest dosage in the morning or evening, and found no clear benefit for either schedule in terms of hormonal status, nocturnal blood pressure, and sleep and activity scores. Individual optimization of dose distribution and monitoring disease control at multiple time points is recommended due to variation in individual responses.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Endocrinology & Metabolism
Carlijn A. Hoekx, Dorine Bresters, Saskia le Cessie, Wilma Oostdijk, Sabine E. Hannema
Summary: Growth hormone treatment has a positive effect on adult height compared to predicted adult height, although it remains significantly lower than target height. Girls and patients who did not receive total body irradiation (TBI) show better growth in adult height after growth hormone treatment.
CLINICAL ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Uta Neumann, Annelieke van der Linde, Ruth E. Krone, Nils P. Krone, Ayla Guven, Tulay Guran, Heba Elsedfy, Sukran Poyrazoglu, Feyza Darendeliler, Tania A. S. S. Bachega, Antonio Balsamo, Sabine E. Hannema, Niels Birkebaek, Ana Vieites, Ajay Thankamony, Martine Cools, Tatjana Milenkovic, Walter Bonfig, Eduardo Correa Costa, Navoda Atapattu, Liat de Vries, Guilherme Guaragna-Filho, Marta Korbonits, Klaus Mohnike, Jillian Bryce, S. Faisal Ahmed, Bernard Voet, Oliver Blankenstein, Hedi L. Claahsen-van der Grinten
Summary: This study analyzed the use of salt supplementation, medication dosage, and growth indicators in children with CAH aged 0-3 years. The results showed that in children receiving additional salt supplementation, medication dosages were lower during the first months of life but there were no differences in weight, height, and blood pressure compared to those not receiving salt supplementation. All children showed an increase in BMI-SDS and a high proportion of blood pressure readings exceeding the normal range.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Kirsten Davidse, Anneloes van Staa, Wanda Geilvoet, Judith P. van Eck, Karlijn Pellikaan, Janneke Baan, Anita C. S. Hokken-Koelega, Erica L. T. van den Akker, Theo Sas, Sabine E. Hannema, Aart Jan van der Lely, Laura C. G. de Graaff
Summary: Transition from paediatric to adult endocrinology poses a risk of dropout, with 73% of dropouts attributed to failures in logistic processes. Practical recommendations are provided to prevent dropout.
ENDOCRINE CONNECTIONS
(2022)
Article
Biophysics
L. C. de Kloet, J. E. Bense, M. Y. E. C. van der Stoep, M. Louwerens, E. G. J. von Asmuth, A. C. Lankester, A. P. J. de Pagter, S. E. Hannema
Summary: The number of children undergoing hematopoietic stem cell transplantation (HSCT) for nonmalignant diseases has increased in recent years. This study retrospectively evaluated the long-term prevalence and risk factors of endocrine complications in survivors of pediatric HSCT for nonmalignant diseases. The results showed that gonadal dysfunction, near adult height below average, and hypothyroidism are common in these patients, indicating the importance of long-term endocrine follow-up.
BONE MARROW TRANSPLANTATION
(2022)
Article
Endocrinology & Metabolism
Neil Lawrence, Irina Bacila, Jeremy Dawson, Jillian Bryce, Salma R. Ali, Erica L. T. van den Akker, Tania A. S. S. Bachega, Federico Baronio, Niels H. Birkebaek, Walter Bonfig, Hedi C. van der Grinten, Eduardo C. Costa, Liat de Vries, Heba Elsedfy, Ayla Guven, Sabine Hannema, Violeta Iotova, Hetty J. van der Kamp, Maria C. Leon, Corina R. Lichiardopol, Tatjana Milenkovic, Uta Neumann, Ana Nordenstrom, Sukran Poyrazoglu, Ursina Probst-Scheidegger, Luisa De Sanctis, Rieko Tadokoro-Cuccaro, Ajay Thankamony, Ana Vieites, Zehra Yavas, Syed Faisal Ahmed, Nils Krone
Summary: This study evaluated the relationship between 17OHP and D4 with HC dose in CAH patients using real-world data. The results showed significant variability in biomarker values among patients and a good correlation between D4 and age, while 17OHP was not significantly associated with age. HC dose was negatively correlated with weight gain.
CLINICAL ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Lidewij Sophia Boogers, Chantal Maria Wiepjes, Daniel Tatting Klink, Ilse Hellinga, Adrianus Sarinus Paulus van Trotsenburg, Martin den Heijer, Sabine Elisabeth Hannema
Summary: This study investigates the effects of GnRHa and GAHT on growth and the efficacy of growth-reductive treatment. The results show that GnRHa decelerates growth velocity, while GAHT accelerates it. Adult height after regular-dose treatment is slightly lower than predicted at the start of GnRHa, but not significantly different from target height.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Genetics & Heredity
Yolande van Bever, Irene A. L. Groenenberg, Maarten F. C. M. Knapen, Arianne B. Dessens, Sabine E. Hannema, Katja P. Wolffenbuttel, Karin E. M. Diderich, Lies H. Hoefsloot, Malgorzata Srebniak, Hennie T. Bruggenwirth
Summary: This study aimed to report the uptake of genetic counseling and prenatal genetic testing after the finding of atypical genitalia on prenatal ultrasound. The results showed that a majority of parents opted for counseling and invasive testing, with a total genetic diagnostic yield of 24%.
PRENATAL DIAGNOSIS
(2023)
Article
Psychology, Developmental
Lieke Josephina Jeanne Johanna Vrouenraets, Annelou L. C. de Vries, Marijn Arnoldussen, Sabine E. Hannema, Ramon J. L. Lindauer, Martine C. de Vries, Irma M. Hein
Summary: This study explores the perspectives of transgender adolescents, their parents, and clinicians on the medical decision-making competence (MDC) to start puberty suppression (PS). The findings suggest that assessing MDC is challenging, but understanding, appreciating, reasoning, and communicating a choice are important criteria. While most participants believe understanding and appreciating PS is important for MDC, they also acknowledge that adolescents may not fully comprehend the consequences. Parental support is considered essential in the decision-making process, and clinicians find it difficult to assess and implement MDC consistently.
EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
(2023)
Meeting Abstract
Endocrinology & Metabolism
Lieve Willemsen, Lidewij Boogers, Chantal Wiepjes, Paul van Trotsenburg, Daniel Klink, Martin den Heijer, Sabine Hannema
HORMONE RESEARCH IN PAEDIATRICS
(2022)
Meeting Abstract
Endocrinology & Metabolism
Neil R. Lawrence, Irina Bacila, Jeremy Dawson, Salma R. Ali, Erica L. T. van den Akker, Tania Aparecida Sartori Sanchez Bachega, Federico Baronio, Niels Holtum Birkebaek, Walter Bonfig, Claahsen van der Grinten, Martine Cools, Eduardo Correa Costa, Liat de Vries, Christa Fluck, Gabriella Gazdagh, Ayla Guven, Sabine Hannema, Violeta Iotova, Hetty J. van der Kamp, Ruth Krone, Sofia Leka-Emiri, Maria Clemente Leon, Corina Raducanu Lichiardopol, Renata L. Markosyan, Tatjana Milenkovic, Mirela Costa de Miranda, Uta Neumann, John Newell-Price, Sukran Poyrazoglu, Ursina Probst-Scheidegger, Gianni Russo, Luisa De Sanctis, Adam Safwaan, Sumudu Seneviratne, Marianna Rita Stancampiano, Rieko Tadokoro-Cuccaro, Ajay Thankamony, Ana Vieites, Malgorzata Wasniewska, Diego Yeste, Eleni Daniel, Jeremy Tomlinson, S. Faisal Ahmed, Nils Krone
HORMONE RESEARCH IN PAEDIATRICS
(2022)
Meeting Abstract
Endocrinology & Metabolism
Rieko Tadokoro-Cuccaro, Ieuan Hughes, Martine Cools, Koen van de Vijver, Berenice Bilharinho de Mendonca, Sorahia Domenice, Rafael L. Batista, Renata Thomazini Dallago, Nathalia Lisboa Gomes, Elaine F. Costa, Andrea T. Maciel-Guerra, Gil Guerra-Junior, Juliana Gabriel Ribeiro de Andrade, Angela Lucas-Herald, Jillian Bryce, Sabine Hannema, Anders Juul, Eugenia Globa, Kenneth M. Elreavey, Federico Baronio, Jimena Lopez Dacal, Feyza Darendeliler, Sukran Poyrazoglu, Zofia Kolesinska, Marek Niedziela, Hedi L. Claahsen-van der Grinten, Erica L. T. van den Akke, Gloria Herrmann, Navoda Atapattu, Vandana Jain, Rajni Sharma, Markus Bettendorf, Daniel Konrad, Paul Martin Holterhus, Simona Fica, Mars Skae, Gianni Russo, Marianna Rita Stancampiano, Gabriella Gazdagh, Justin H. Davies, Zainaba Mohamed, Sumudu Nimali Seneviratne, Tulay Guran, Ayla Guven, Malgorzata Wasniewska, Vilhelm Mladenov, Gilvydas Verkauskas, Renata Markosyan, Marta Korbonits, S. Faisal Ahmed, Olaf Hiort, Isabel Wagner, Ajay Thankamony
HORMONE RESEARCH IN PAEDIATRICS
(2022)
Meeting Abstract
Endocrinology & Metabolism
Lidewij Boogers, Sebastiaan Sardo Infirri, Asma Bouchareb, Christel de Blok, Niels Liberton, Paul van Trotsenburg, Koen Dreijerink, Martin den Heijer, Chantal Wiepjes, Sabine Hannema
HORMONE RESEARCH IN PAEDIATRICS
(2022)
Meeting Abstract
Developmental Biology
Rieko Tadokoro Cuccaro, Ieuan Hughes, Martine Cools, Koen van de Vijver, Berenice Bilharinho de Mendonca, Sorahia Domenice, Rafael L. Batista, Renata Thomazini Dallago, Nathalia Lisboa Gomes, Elaine F. Costa, Andrea T. Maciel-Guerra, Gil Guerra-Junior, Juliana Gabriel Ribeiro de Andrade, Angela Lucas-Herald, Jillian Bryce, Sabine Hannema, Anders Juul, Eugenia Globa, Kenneth M. Elreavey, Federico Baronio, Jimena Lopez Dacal, Feyza Darendeliler, Sukran Poyrazoglu, Zofia Kolesinska, Marek Niedziela, Hedi Claahsen, Erica L. T. van den Akker, Gloria Herrmann, Navoda Atapattu, Vandana Jain, Rajni Sharma, Markus Betterdorf, Daniel Konrad, Paul Martin Holterhus, Simona Fica, Mars Skae, Gianni Russo, Marianna Rita Stancampiano, Gabriella Gazdagh, Justin H. Davies, Zainaba Mohamed, Sumudu Nimali Seneviratne, Tulay Guran, Ayla Guven, Malgorzata Wasniewska, Vilhelm Mladenov, Gilvydas Verkauskas, Renata Markosyan, Marta Korbonits, Olaf Hiort, IsabelViola Wagner, S. Faisal Ahmed, Ajay Thankamony
SEXUAL DEVELOPMENT
(2022)
Meeting Abstract
Developmental Biology
Sabine Hannema
SEXUAL DEVELOPMENT
(2022)