Results 81 to 90 of about 3,098 (225)
Genital ambiguity: a cytogenetic evaluation of gender [PDF]
, 2021 Background: Genital ambiguity is a complex genetic disorder of sexual differentiation into male or female. The purpose of the present study is to correlate the sex of rearing with the genetic sex and to find out the prevalence of chromosomal anomalies in
Bhagyam, V. +3 more
core +2 more sources
Molecular Genetics &Genomic Medicine, Volume 13, Issue 6, June 2025.The overall genotype–phenotype concordance was found to be 73.1% (68/93). The expected concordance with the SW form of the null (n = 12) and A (n = 51) groups is 91.6% and 88.2%, respectively. While the percentage of the expected clinical form of SV in patients in group B (n = 5) was 80%, the concordance for the expected clinical form of NC for group C
Nurgul Atas +2 more
wiley +1 more source
Fraser of cryptophthalmosis syndrome: A case report [PDF]
, 2004 Fraser or cryptophthalmos syndrome is a rare autosomal recessive disorder characterized by major features such as cryptophthalmos, syndactyly, and abnormal genitalia. Consanguinity is reported in 15-24.8% of the cases.
Adibi, B. +3 more
core
Zoo Biology, Volume 44, Issue 3, Page 248-261, May/June 2025.ABSTRACT Assessing steroid hormones through feces provides invaluable insight on the stress and reproductive physiology of wildlife, and has been broadly applied to monitor the health and welfare of wild animals managed under human care. This study utilized fecal hormone monitoring to evaluate adrenal and gonadal activity in 18 captive lions (Panthera ...
Paula Serres‐Corral +9 more
wiley +1 more source
Journal of Anatomy, Volume 246, Issue 2, Page 190-204, February 2025.The peri‐urogenital thick skin induces the formation of sex‐hormone‐sensitive endodermal and mesenchymal structures, and striated muscles. Endoderm and mesenchyme mutually exchange sex‐hormone‐dependent differentiative signals. Whether these signals also affect subcutaneous muscle development is not yet known.
Cindy J. M. Hülsman +6 more
wiley +1 more source
Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals [PDF]
, 2016 Steroidogenic factor 1 (NR5A1, SF-1, Ad4BP) is a transcriptional regulator of genes involved in adrenal and gonadal development and function. Mutations in NR5A1 have been among the most frequently identified genetic causes of gonadal development ...
Achermann, JC +15 more
core
Supporting Transgender, Nonbinary, and Gender Diverse Youth During Solid Organ Transplantation
Pediatric Transplantation, Volume 29, Issue 1, February 2025.ABSTRACT As gender diversity becomes more understood and accepted in mainstream culture, medical systems and health care providers must learn to provide comprehensive and affirming care to gender diverse individuals. As the number of gender diverse pediatric patients continues to grow, these patients will be cared for by pediatric solid‐organ ...
Kelsi Alexander +2 more
wiley +1 more source
Amenorrhea Due to Defects in Steroid Biosynthesis [PDF]
, 1975 Amenorrhea as the first manifestation of a steroid biosynthetic defect is rather unusual. The common forms of congenital adrenal hyperplasia are classic examples of steroid biosynthetic defects.
Mathur, Rajesh S., Williamson, H. Oliver
core +1 more source
Indian Journal of Radiology and Imaging, 2016 Genitourinary involvement of neurofibromatosis is uncommon and genital neurofibromatosis is even rarer. Involvement of clitoris by neurofibroma can lead to clitoromegaly masquerading as a male penis.
Ishan Kumar +5 more
doaj +1 more source
Treatment of the Enlarged Clitoris [PDF]
, 2017 Management of the enlarged clitoris, because of its import for sexual function, has been and remains one of the most controversial topics in pediatric urology. Early controversy surrounding clitoroplasty resulted from many factors including an incomplete
Kaefer, Martin, Rink, Richard C.
core +2 more sources