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  1. Article ; Online: Progressive osseous heteroplasia caused by a mosaic GNAS mutation.

    Pereda, Arrate / Martos-Tello, Jose Maria / Garin, Intza / Errea-Dorronsoro, Javier / Perez de Nanclares, Guiomar

    Clinical endocrinology

    2018  Volume 88, Issue 6, Page(s) 993–995

    MeSH term(s) Adult ; Bone Diseases, Metabolic/diagnostic imaging ; Bone Diseases, Metabolic/genetics ; Chromogranins/genetics ; Exons/genetics ; Female ; GTP-Binding Protein alpha Subunits, Gs/genetics ; Humans ; Mutation/genetics ; Ossification, Heterotopic/diagnostic imaging ; Ossification, Heterotopic/genetics ; Sequence Analysis, RNA ; Skin Diseases, Genetic/diagnostic imaging ; Skin Diseases, Genetic/genetics
    Chemical Substances Chromogranins ; GNAS protein, human (EC 3.6.1.-) ; GTP-Binding Protein alpha Subunits, Gs (EC 3.6.5.1)
    Language English
    Publishing date 2018-03-25
    Publishing country England
    Document type Case Reports ; Letter ; Research Support, Non-U.S. Gov't
    ZDB-ID 121745-8
    ISSN 1365-2265 ; 0300-0664
    ISSN (online) 1365-2265
    ISSN 0300-0664
    DOI 10.1111/cen.13584
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

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  2. Article ; Online: Clinical practice guidelines for transsexual, transgender and gender diverse minors.

    Moral-Martos, Amadora / Guerrero-Fernández, Julio / Gómez-Balaguer, Marcelino / Rica Echevarría, Itxaso / Campos-Martorell, Ariadna / Chueca-Guindulain, María Jesús / García García, Emilio / Hoyos-Gurrea, Raúl / López de Lara, Diego / López-Siguero, Juan Pedro / Martos Tello, José María / Mora Palma, Cristina / Riaño Galán, Isolina / Yeste Fernández, Diego

    Anales de pediatria

    2022  Volume 96, Issue 4, Page(s) 349.e1–349.e11

    Abstract: Some people, including minors, have a gender identity that does not correspond to the sex assigned at birth. They are known as trans* people, which is an umbrella term that encompasses transgender, transsexual, and other identities not conforming to the ... ...

    Abstract Some people, including minors, have a gender identity that does not correspond to the sex assigned at birth. They are known as trans* people, which is an umbrella term that encompasses transgender, transsexual, and other identities not conforming to the assigned gender. Healthcare units for trans* minors require multidisciplinary working, undertaken by personnel expert in gender identity, enabling, when requested, interventions for the minor and their social-familial environment, in an individualized and flexible way during the gender affirmation path. This service model also includes hormonal treatments tailored as much as possible to the individual's needs, beyond the dichotomic goals of a traditional binary model. This guide addresses the general aspects of professional care of trans* minors and presents the current evidence-based protocol of hormonal treatments for trans* and non-binary adolescents. In addition, it details key aspects related to expected body changes and their possible side effects, as well as prior counselling about fertility preservation.
    MeSH term(s) Adolescent ; Female ; Gender Dysphoria/drug therapy ; Gender Identity ; Humans ; Male ; Minors ; Practice Guidelines as Topic ; Transgender Persons ; Transsexualism/therapy
    Language English
    Publishing date 2022-05-06
    Publishing country Spain
    Document type Journal Article
    ZDB-ID 2830901-7
    ISSN 2341-2879 ; 2341-2879
    ISSN (online) 2341-2879
    ISSN 2341-2879
    DOI 10.1016/j.anpede.2022.02.002
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Consensus guide on prophylactic gonadectomy in different sex development.

    Guerrero-Fernández, Julio / González-Peramato, Pilar / Rodríguez Estévez, AmaiaRodríguez / Alcázar Villar, María José / Audí Parera, Laura / Azcona San Julián, María Cristina / Carcavilla Urquí, Atilano / Castaño González, Luis Antonio / Martos Tello, José María / Mora Palma, Cristina / Moreno Macián, Maria Francisca / Yeste Fernández, Diego / Nistal, Manuel

    Endocrinologia, diabetes y nutricion

    2022  Volume 69, Issue 8, Page(s) 629–645

    Abstract: The risk of suffering from gonadal germ cell tumors (GCT) is increased in some patients with different sexual development (DSD), mainly in those with Y chromosome material. This risk, however, varies considerably depending on a multitude of factors that ... ...

    Abstract The risk of suffering from gonadal germ cell tumors (GCT) is increased in some patients with different sexual development (DSD), mainly in those with Y chromosome material. This risk, however, varies considerably depending on a multitude of factors that make the decision for prophylactic gonadectomy extremely difficult. In order to make informed recommendations on the convenience of this procedure in cases where there is potential for malignancy, this consensus guide evaluates the latest clinical evidence, which is generally low, and updates the existing knowledge in this field.
    MeSH term(s) Humans ; Consensus ; Sexual Development ; Neoplasms, Germ Cell and Embryonal/surgery ; Castration
    Language English
    Publishing date 2022-11-08
    Publishing country Spain
    Document type Practice Guideline ; Journal Article
    ISSN 2530-0180
    ISSN (online) 2530-0180
    DOI 10.1016/j.endien.2022.10.002
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Guía de actuación en las anomalías de la diferenciación sexual (ADS) / desarrollo sexual diferente (DSD).

    Guerrero-Fernández, Julio / Azcona San Julián, Cristina / Barreiro Conde, Jesús / Bermúdez de la Vega, José Antonio / Carcavilla Urquí, Atilano / Castaño González, Luis Antonio / Martos Tello, José María / Rodríguez Estévez, Amaya / Yeste Fernández, Diego / Martínez Martínez, Leopoldo / Martínez-Urrutia, María José / Mora Palma, Cristina / Audí Parera, Laura

    Anales de pediatria

    2018  Volume 89, Issue 5, Page(s) 315.e1–315.e19

    Abstract: Disorders of Sex Development (DSD) include a wide range of anomalies among the chromosomal, gonadal, and phenotypic (genital) characteristics that define sexual differentiation. At present, a definition as Different Sexual Development (DSD) is currently ... ...

    Title translation Management guidelines for disorders / different sex development (DSD).
    Abstract Disorders of Sex Development (DSD) include a wide range of anomalies among the chromosomal, gonadal, and phenotypic (genital) characteristics that define sexual differentiation. At present, a definition as Different Sexual Development (DSD) is currently preferred. They originate in the pre-natal stage, are classified according to the sex chromosomes present in the karyotype. The known genetic causes are numerous and heterogeneous, although, in some cases, they may be secondary to maternal factors and/or exposure to endocrine-disrupting chemicals (EDCs). The diagnosis and treatment of DSD always requires multidisciplinary medical and psychosocial care. An aetiological diagnosis needs the interaction of clinical, biochemical (hormonal), genetic, imaging and, sometimes, surgical examinations. The treatment should deal with sex assignment, the possible need for hormone replacement therapy (adrenal if adrenal function is impaired, and with sex steroids from pubertal age if gonadal function is impaired), as well as the need for surgery on genital structures (currently deferred when possible) and/or on gonads (depending on the risk of malignancy), the need of psychosocial support and, finally, an adequate organisation of the transition to adult medical specialties. Patient Support Groups have a fundamental role in the support of families, as well as the interaction with professional and social media. The use of Registries and the collaboration between professionals in Working Groups of national and international medical societies are crucial for improving the diagnostic and therapeutic tools required for the care of patients with DSD.
    MeSH term(s) Algorithms ; Child ; Disorders of Sex Development/diagnosis ; Disorders of Sex Development/therapy ; Female ; Humans ; Male
    Language Spanish
    Publishing date 2018-07-20
    Publishing country Netherlands
    Document type Journal Article ; Practice Guideline
    ZDB-ID 2830901-7
    ISSN 2341-2879 ; 2341-2879
    ISSN (online) 2341-2879
    ISSN 2341-2879
    DOI 10.1016/j.anpedi.2018.06.009
    Database MEDical Literature Analysis and Retrieval System OnLINE

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