Results 31 to 40 of about 3,123,862 (240)
Metastatic dysgerminoma in a young patient with 46 XY DSD: A rare case report
Gynecologic Oncology Reports, 2021 The term DSD (Disorders of Sex development) is issued to define those conditions in whom disharmony exists between chromosomal, hormonal and anatomical sex. Parental and patient mental health and quality of life are adversely affected by these conditions.
Surekha Thakur +5 more
doaj
A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite male
Clinical Case Reports, 2020 Deficiency of the 5‐alpha‐reductase may have an important role in 46,XY DSD in some cohorts. The prenatal ultrasonography and karyotyping can trigger the attention toward the presence of a DSD in fetus.
Setilla Dalili +4 more
doaj +1 more source
Classifying Rhoticity of /r/ in Speech Sound Disorder using Age-and-Sex Normalized Formants [PDF]
Proc. INTERSPEECH 2023, 4563-4567, 2023 Mispronunciation detection tools could increase treatment access for speech sound disorders impacting, e.g., /r/. We show age-and-sex normalized formant estimation outperforms cepstral representation for detection of fully rhotic vs. derhotic /r/ in the PERCEPT-R Corpus.
arxiv +1 more source
Imaging Evaluation of Disorders of Sex Development
Journal of Gastrointestinal and Abdominal Radiology, 2020 Disorders of sex development (DSD) refer to congenital conditions with a typical development of chromosomal, gonadal, or anatomic sex. In the revised classification of DSD, there are three categories based on karyotype: 46,XX DSD; 46,XY DSD; and sex ...
Anu Eapen +5 more
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Embracing Sex-specific Differences in Engineered Kidney Models for Enhanced Biological Understanding [PDF]
, 2023 In vitro models play a crucial role in advancing our understanding of biological processes, disease mechanisms, and developing screening platforms for drug discovery. Kidneys play an instrumental role in transport and elimination of drugs and toxins.
arxiv +1 more source
, 2020 Disorders of Sex Development includes a range of conditions where there may be genital ambiguity at birth or becomes evident later in childhood. It occurs as a result of errors in development of external and internal genital structures. The diagnosis and management of these conditions requires a multidisciplinary approach with shared decision making ...
Prasad Godbole, Neil Wright
+7 more sources
Non-Syndromic 46,XY Disorders of Sex Development
Acta Medica Martiniana, 2018 Non-syndromic 46,XY DSD (disorders of sex development) represent a phenotypically diversiform group of disorders. We focus on the association between gene variants and the most frequent types of non-syndromic 46,XY DSD, options of molecular genetic ...
Gecz J, Breza J, Banovcin P
doaj +1 more source
Male Hypogonadism and Disorders of Sex Development
Frontiers in Endocrinology, 2020 Disorders of Sex Development (DSD) are congenital anomalies in which there is a discordance between chromosomal, genetic, gonadal, and/or internal/external genital sex.
Romina P. Grinspon +3 more
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True hermaphrodite presenting as primary amenorrhea
Indian Journal of Endocrinology and Metabolism, 2012 True hermaphrodite is one of the rare variety of disorders of sex development. Most of them are genotypically females (46 XX) and present as under virilized males. Features of hyperandrogenism are present in those reared as females.
Lal Bahadur Palo +3 more
doaj +1 more source
Mutation of c.244G>T in NR5A1 gene causing 46, XY DSD by affecting RNA splicing
Orphanet Journal of Rare Diseases, 2021 Objective To identify the pathogenic mechanism of the c.244G>T mutation in NR5A1 gene found in a Chinese patient with 46, XY disorders of sex development (DSD). Subjects and methods: Genomic DNA was extracted from a Chinese 46, XY DSD patient.
Bingqing Yu +5 more
doaj +1 more source