Children do not think as adults do. They would therefore be less worried than adults are about a diagnosis with serious or ominous implications, yet they are commonly left uninformed until someone judges that they are old enough to understand. For most, this means delivery of painful information during the very vulnerable teenage years. A better approach is to unfold the truth stage by stage, matching simple statements to the child's conceptual growth until the personal implications are finally realised as part of a maturing process. Use of this approach for a child with testicular feminisation is described.
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http://dx.doi.org/10.1016/0140-6736(91)93344-9 | DOI Listing |
J Minim Invasive Gynecol
January 2025
Department of Obstetrics and Gynecology, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea. Electronic address:
Appl Clin Genet
December 2024
Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, 93-338, Poland.
Androgen insensitivity syndrome (AIS) is an X-linked genetic disorder caused by mutations in the androgen receptor gene (), leading to impaired androgen signaling and resulting in varying degrees of undermasculinization in individuals with a 46,XY karyotype. This study aimed to expand the molecular landscape of AIS by identifying and characterizing pathogenic variants in the gene via next-generation sequencing (NGS). Molecular diagnostics revealed eight distinct variants within the gene, two of which had not been previously described.
View Article and Find Full Text PDFClin Case Rep
December 2024
Department of Obstetrics and Gynecology Tribhuvan University, Institute of Medicine Kathmandu Nepal.
Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is a rare congenital disorder characterized by agenesis of the uterus and upper two-thirds of the vagina. It affects around 1 in 4000-5000 females and is of two types: type 1, also known as isolated Müllerian aplasia or Rokitansky, which involves only uterovaginal agenesis, and type 2, presents as uterovaginal agenesis along with renal, cardiac, and other organ anomalies. Despite the absence of vaginal and uterine structures, individuals with MRKHS typically present with normal secondary sexual characteristics and ovarian functions.
View Article and Find Full Text PDFJ Int Med Res
November 2024
Department of Gynecology, Faculty of Medicine, University Geomedi, Tbilisi, Georgia.
J Clin Med
November 2024
Department of Gynecological Endocrinology, Clinical Hospital of Duchess Anna Mazowiecka, Medical University of Warsaw, 2 Karowa Street, 00-315 Warsaw, Poland.
Introduction: Currently, progesterone is notably absent from conventional feminizing hormone therapies for transgender women. Anecdotal reports indicate the potential for health advantages following the incorporation of progesterone into treatment regimens. The primarily female hormone, progesterone naturally surges in women during the menstrual luteal phase.
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