We present the first description of a family in which 2 siblings show alternative expression of CRKL gene deletion as the phenotypes of Zinner (OSVIRA, obstructed seminal vesicle and ipsilateral renal agenesis) and OHVIRA (obstructed hemivagina with an ipsilateral renal anomaly) syndromes. The male infant with Zinner syndrome and his sister aged 5 years with OHVIRA syndrome both have a paternally inherited 703-kb deletion at chromosome 22q11.21 that includes CRKL. This observation supports Acien's hypothesis that the upper vagina has an embryological dual origin and furthermore substantiates the theory that Zinner (OSVIRA) is the male equivalent of OHVIRA in females.
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CRKL Gene Deletion in Familial Zinner (OSVIRA) and OHVIRA Syndromes.
Pediatrics
January 2025
Department of Paediatric Surgery & Urology, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom.
We present the first description of a family in which 2 siblings show alternative expression of CRKL gene deletion as the phenotypes of Zinner (OSVIRA, obstructed seminal vesicle and ipsilateral renal agenesis) and OHVIRA (obstructed hemivagina with an ipsilateral renal anomaly) syndromes. The male infant with Zinner syndrome and his sister aged 5 years with OHVIRA syndrome both have a paternally inherited 703-kb deletion at chromosome 22q11.21 that includes CRKL.
View Article and Find Full Text PDFMagnetic Resonance Imaging Evaluation of Wolffian Duct Anomalies - OHVIRA and OSVIRA.
J Hum Reprod Sci
May 2024
Department of Radiodiagnosis, Atal Bihari Vajpayee Institute of Medical Sciences and Dr. Ram Manohar Lohia Hospital, New Delhi, India.
Herlyn-Werner-Wunderlich syndrome in females, also known as obstructed haemivagina and ipsilateral renal agenesis (OHVIRA), and Zinner's syndrome, also known as OSVIRA in males, are two rare congenital syndromes affecting the urogenital tract. OHVIRA is obstructed haemivagina and ipsilateral renal agenesis and OSVIRA abbreviation stands for obstructed seminal vesicle and ipsilateral renal agenesis. For a long, these syndromes were considered different entities, owing to our poor understanding of underlying embryopathogenesis; however, in light of the recent acceptance of the Wolffian origin of the vagina in its entirety, these two syndromes are considered to be cut from the same cloth.
View Article and Find Full Text PDFWolffian Origin of Vagina Unfolds the Embryopathogenesis of OHVIRA (Obstructed Hemivagina and Ipsilateral Renal Anomaly) Syndrome and Places OHVIRA as a Female Counterpart of Zinner Syndrome in Males.
Pol J Radiol
November 2016
Department of Radiodiagnosis, M.P. Shah Medical College, Jamnagar, Gujarat, India.
Background: The classical theory of Müllerian origin of upper vagina fails to explain complex urogenital malformations like OHVIRA syndrome; the Acien's hypothesis, however, unravels the hidden embryopathogenesis. As per Acien, Wolffian (mesonephric) ducts instead of Müllerian ducts and sinovaginal bulbs, give rise to the vagina. The new hypothesis, however, retains the concept of origin of the ureters (with ureters inducing renal development) by the former and the uterus by Müllerian ducts.
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