5 results on '"Grinspon, Romina P"'
Number of results to display per page
Search Results
2. Contributors
- Author
-
Antonini, Sonir R., primary, Awamleh, Zain, additional, Bacon, Sioban, additional, Badiu, Corin, additional, Beardsall, Kathryn, additional, Block-Kurbisch, Ingrid J., additional, Boelaert, Kristien, additional, Bourdeau, Isabelle, additional, Bronstein, Marcello D., additional, Budge, Helen, additional, Cerbone, Manuela, additional, Chakhtoura, Marlene, additional, Chakraborty, Pranesh, additional, Chitimus, Diana Maria, additional, Costin, Gertrude, additional, Dattani, Mehul T., additional, De Leon, Diva D., additional, Deal, Cheri L., additional, Deladoëy, Johnny, additional, Donovan, Lois E., additional, El-Hajj Fuleihan, Ghada, additional, Feig, Denice S., additional, Freire, Analía V., additional, Gao, Qinqin, additional, Garneau, Audrey, additional, Glezer, Andrea, additional, Gomez-Lobo, Veronica, additional, Grinspon, Romina P., additional, Han, Victor, additional, Hovey, Russell C., additional, Jallad, Raquel Soares, additional, Jonnakuti, Venkata S., additional, Karalis, Aspasia, additional, Katugampola, Harshini, additional, Khalil, Asma, additional, Khan, Md. Wasim, additional, Khattab, Ahmed, additional, Kovacs, Christopher S., additional, Kwok, T’ng Chang, additional, Laberge, Anne-Marie, additional, Lacroix, André, additional, Lau, David C.W., additional, Lawrence, Sarah Elizabeth, additional, Layden, Brian T., additional, Le Duc, Diana, additional, Li, Na, additional, Li, Xiang, additional, Light, Alexis, additional, Liu, Bailin, additional, Lu, Xiyuan, additional, Lumbers, Eugenie R., additional, Macdonald, Anne, additional, Machado, Marcio Carlos, additional, McGee, Elizabeth A., additional, Mesiano, Sam A., additional, Mukerji, Geetha, additional, Murray, Cathy M., additional, Narasimhan, Mithra L., additional, New, Maria, additional, Ogilvy-Stuart, Amanda L., additional, Ojha, Shalini, additional, Orr, Christine J., additional, Panaitescu, Anca Maria, additional, Papadakis, Georgios E., additional, Paslaru, Francesca Gabriela, additional, Paul, Jonathan, additional, Peltecu, Gheorghe, additional, Phung, Jason, additional, Pitteloud, Nelly, additional, Prior, Jerilynn C., additional, Quandt, Zoe E., additional, Radford, Bethany, additional, Ramalho, Fernando S., additional, Rey, Rodolfo A., additional, Ropelato, María Gabriela, additional, Rosca, Adrian Eugen, additional, Rowe, Christopher W., additional, Ryniec, Jessica A., additional, Sadovnikova, Anna, additional, Salmeen, Kirsten E., additional, Samuels, Mark E., additional, Sherf, Sahar, additional, Shim, Jien, additional, Smith, Roger, additional, Stanescu, Diana E., additional, Stark, Brett, additional, Stecchini, Monica F., additional, St-Jean, Matthieu, additional, Strauss, Jerome F., additional, Sun, Miao, additional, Symonds, Michael E., additional, Tang, Jiaqi, additional, Townsend, Rosemary, additional, Voiculescu, Suzana Elena, additional, von Oettingen, Julia Elisabeth, additional, Ward, Leanne M., additional, Wayne, Declan, additional, Witkop, Catherine Takacs, additional, Wysolmerski, John J., additional, Xu, Cheng, additional, Xu, Zhice, additional, Yamamoto, Jennifer M., additional, Yang, Jessica S., additional, Young, Steven L., additional, Yu, Run, additional, Zagrean, Ana-Maria, additional, Zagrean, Leon, additional, Zhang, Mengshu, additional, and Zhou, Xiuwen, additional
- Published
- 2020
- Full Text
- View/download PDF
3. Genetics of congenital central hypogonadism.
- Author
-
Grinspon RP
- Subjects
- High-Throughput Nucleotide Sequencing, Humans, Male, Testis, Hypogonadism diagnosis
- Abstract
The diagnostic suspicion of congenital central hypogonadism is based on clinical signs. Biochemical confirmation is challenging, especially after the postnatal activation stage of the hypothalamic-pituitary-testicular axis. Sertoli cell markers, like AMH and inhibin B, have become useful tools for the diagnosis of male central hypogonadism during childhood. Different mechanisms can participate in the aetiopathogenesis of central hypogonadism, leading to a deficiency in the production of gonadotrophins. Advances in genetic studies, mainly next generation sequencing techniques, have allowed the discovery of a large number of genes related to central hypogonadism. However, a causal variant is found in approximately half of the patients. Central hypogonadism has been classically described as a pathology with variable expressivity and incomplete penetrance. Currently, these characteristics are known to be partially explained by the presence of oligogenicity, that is the participation of variants in more than one gene in the aetiology of central hypogonadism in the same patient., Competing Interests: Declaration of competing interest The author declares no conflict of interest., (Copyright © 2021 Elsevier Ltd. All rights reserved.)
- Published
- 2022
- Full Text
- View/download PDF
4. Fertility Issues in Disorders of Sex Development.
- Author
-
Guercio G, Costanzo M, Grinspon RP, and Rey RA
- Subjects
- Humans, Disorders of Sex Development complications, Infertility etiology
- Abstract
Fertility potential should be considered by the multidisciplinary team when addressing gender assignment, surgical management, and patient and family counselling of individuals with disorders of sex development. In 46,XY individuals, defects of gonadal differentiation or androgen or anti-Müllerian hormone synthesis or action result in incomplete or absent masculinization. In severe forms, raised as females, motherhood is possible with oocyte donation if Müllerian ducts have developed. In milder forms, raised as males, azoospermia or oligospermia are frequently found, however paternity has been reported. Most 46,XX patients with normal ovarian organogenesis are raised as females, and fertility might be possible after treatment., (Copyright © 2015 Elsevier Inc. All rights reserved.)
- Published
- 2015
- Full Text
- View/download PDF
5. Normal male sexual differentiation and aetiology of disorders of sex development.
- Author
-
Rey RA and Grinspon RP
- Subjects
- Androgen-Insensitivity Syndrome etiology, Animals, Anti-Mullerian Hormone genetics, Anti-Mullerian Hormone physiology, Female, Humans, Hypogonadism etiology, Insulin physiology, Male, Proteins physiology, Sexual Development, Testosterone physiology, Disorders of Sex Development embryology, Gonads embryology, Sex Differentiation physiology
- Abstract
Fetal sex development consists of three sequential stages: a) the undifferentiated stage, when identical primitive structures develop in the XY and XX embryos, b) gonadal differentiation into testes or ovaries, and c) the differentiation of internal and external genitalia, which depends on the action of testicular hormones. Disorders of sex development (DSD) may result from defects in any of these stages. Abnormal formation of the anlagen of internal and/or external genitalia in early embryonic development results in Malformative DSD. In patients with a Y chromosome, defects in testis differentiation drive to early-onset fetal hypogonadism affecting whole testicular function, a condition named Dysgenetic DSD. In Non-dysgenetic DSD, the underlying pathogenesis may involve early-onset fetal hypogonadism affecting specifically either Leydig or Sertoli cell function, or male hormone end-organ defects in patients devoid of fetal hypogonadism. Understanding the pathogenesis is useful for an efficient early diagnosis approach, which is necessary for adequate decision making in the management of DSD., (Copyright © 2010 Elsevier Ltd. All rights reserved.)
- Published
- 2011
- Full Text
- View/download PDF
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.