Browsing by Subject "Disorders of sex development"

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    A brother and sister with the same karyotype: Case report of two siblings with partial 3p duplication and partial 9p deletion and sex reversal
    (Wiley, 2021-05-06) Selby, Susan Cordes; Iwata-Otsubo, Aiko; Delk, Paula; Nebesio, Todd D.; Gohil, Anisha; Matlock, Peggy; Torres-Martinez, Wilfredo; Vance, Gail H.; Medical and Molecular Genetics, School of Medicine
    Two siblings with the same male unbalanced karyotype demonstrate sex reversal. The older sib appeared phenotypically female and the younger sib demonstrated a male gender. The female had gonadal dysgenesis with bilateral ovatestes. The male had bilateral testes. The report discusses the phenotypical differences and genes associated with sex reversal.
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    Predicting Gonadal Germ Cell Cancer in People with Disorders of Sex Development; Insights from Developmental Biology
    (MDPI, 2019-10-10) Looijenga, Leendert H. J.; Kao, Chia-Sui; Idrees, Muhammad T.; Pathology and Laboratory Medicine, School of Medicine
    The risk of gonadal germ cell cancer (GGCC) is increased in selective subgroups, amongst others, defined patients with disorders of sex development (DSD). The increased risk is due to the presence of part of the Y chromosome, i.e., GonadoBlastoma on Y chromosome GBY region, as well as anatomical localization and degree of testicularization and maturation of the gonad. The latter specifically relates to the germ cells present being at risk when blocked in an embryonic stage of development. GGCC originates from either germ cell neoplasia in situ (testicular environment) or gonadoblastoma (ovarian-like environment). These precursors are characterized by presence of the markers OCT3/4 (POU5F1), SOX17, NANOG, as well as TSPY, and cKIT and its ligand KITLG. One of the aims is to stratify individuals with an increased risk based on other parameters than histological investigation of a gonadal biopsy. These might include evaluation of defined susceptibility alleles, as identified by Genome Wide Association Studies, and detailed evaluation of the molecular mechanism underlying the DSD in the individual patient, combined with DNA, mRNA, and microRNA profiling of liquid biopsies. This review will discuss the current opportunities as well as limitations of available knowledge in the context of predicting the risk of GGCC in individual patients.
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    Research Needs for Effective Transition in Lifelong Care of Congenital Genitourinary Conditions: A Workshop Sponsored by the National Institute of Diabetes and Digestive and Kidney Diseases
    (Elsevier, 2017-05) Hsieh, Michael; Wood, Hadley M.; Dicianno, Brad E.; Dosa, Nienke P.; Gomez-Lobo, Veronica; Mattoo, Tej K.; Misseri, Rosalia; Norton, Jenna M.; Sawin, Kathleen J.; Scal, Peter; Wright, James E.; Star, Robert A.; Bavendam, Tamara; Urology, School of Medicine
    Over the last 5 decades, health-care advances have yielded quantum improvements in the life expectancy of individuals with congenital genitourinary conditions (CGCs), leading to a crisis of care. Many individuals with CGC enter adulthood unprepared to manage their condition. Pediatric CGC specialists lack training to manage adulthood-related health-care issues, whereas adult genitourinary specialists lack training within the context of CGCs. To address these challenges, the National Institutes of Diabetes and Digestive and Kidney Diseases convened individuals with CGCs and experts from a variety of fields to identify research needs to improve transitional urology care. This paper outlines identified research needs.