Results 61 to 70 of about 1,143,195 (179)

Acute abdomen in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome [PDF]

open access: yesVojnosanitetski Pregled, 2008
Background. Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a malformation of female genital tract (incidence 1 in 4000 female newborn children). It appears as a result of a disorder in the development of Millerian cannals.
Petrić Aleksandra   +5 more
doaj   +1 more source

Atypical form of Mayer-Rokitansky-Küster-Hauser syndrome: A case report

open access: yesRadiology Case Reports, 2023
Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is a congenital disorder syndrome characterized by failure of the uterine and vaginal organs to develop normally. The prevalence of MRKH is estimated to occur in about 1 in 5000 of female live births.
Dian Komala Dewi, MD   +3 more
doaj   +1 more source

Genetic Characterization and Multidisciplinary Management of Complete Androgen Insensitivity Syndrome: Unveiling a Novel AR Mutation

open access: yesClinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT A novel AR frameshift mutation (c.2023_2035del) was identified in a 17‐year‐old phenotypic female with Complete Androgen Insensitivity Syndrome (CAIS). This report emphasizes the necessity of molecular characterization and multidisciplinary management to address diagnosis, surgical timing, and psychological well‐being in disorder of sex ...
Maria Francesca Astorino   +10 more
wiley   +1 more source

The Care Of Patients With Mayer–Rokitansky–Küster–Hauser Syndrome (Mrkh

open access: yesJournal of Education, Health and Sport, 2017
Stadnicka Grażyna, Łepecka-Klusek Celina, Pilewska-Kozak Anna Bogusława, Pawłowska-Muc Agnieszka Konstancja, Bałanda‑Bałdyga Agnieszka. The care of patients with Mayer–Rokitansky–Küster–Hauser syndrome (MRKH). Journal of Education, Health and Sport. 2017;7(3):361-370. eISSN 2391-8306.
Grażyna Stadnicka   +4 more
openaire   +4 more sources

Detection of de novo genetic variants in Mayer–Rokitansky–Küster–Hauser syndrome by whole genome sequencing

open access: yesEuropean Journal of Obstetrics & Gynecology and Reproductive Biology: X, 2019
Objective: The aim of this study was to use whole genome sequencing (WGS) help detect de novo mutations or pathogenic genes of Mayer-Rokitansky-Küster-Hauser syndrome type 1(MRKH syndrome type 1). Study design: This was a case-parent trios study.
Hong-xin Pan   +8 more
doaj   +1 more source

Rare association of Turner syndrome and Mayer-Rokitansky-Kuster Hauser syndrome [PDF]

open access: yes, 2022
Turner syndrome and Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare association. The incidences of Turner and MRKH syndromes are estimated at 1/2000 and 1/4500 female births respectively.
Ndiade, Amadou   +3 more
core   +1 more source

Improvement of Trauma-Informed Care for Women with MRKH

open access: yes, 2022
Mayer-Rokitansky-Küster-Hauser Syndrome (MRKH) is a congenital disorder among biological females that is characterized by the absence or underdevelopment of the uterus, vagina, and cervix (Laggari et al., 2009).
Podolin, Danielle
core   +2 more sources

Müllerian Agenesis Masquerading as Secondary Amenorrhea

open access: yesCase Reports in Pediatrics, 2018
The most common cause of primary amenorrhea is congenital malformation of the Müllerian ducts, including Müllerian agenesis, also known as Mayer–Rokitansky–Küster–Hauser syndrome (MRKH).
Gloria Tavera, Rina Lazebnik
doaj   +1 more source

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome

open access: yesClinical Genetics, Volume 109, Issue 4, Page 788-795, April 2026.
We identified a recurrent heterozygous MAX c.179G>A:p.Arg60Gln variant in two unrelated females affected with the emerging phenotypes of MAX‐associated polydactyly‐macrocephaly syndrome. We propose that genitourinary abnormalities, including Mayer–Rokitanski–Kuster–Hauser syndrome in one individual, are an expansion of the known phenotypes associated ...
Iftekhar A. Showpnil   +9 more
wiley   +1 more source

Mayer-Rokitansky-Kuster-Hauser Syndrome Associated with Severe Inferior Vena Cava Stenosis

open access: yesCase Reports in Obstetrics and Gynecology, 2014
Precis. The postoperative course of a neovagina creation procedure in a young woman with Meyer-Rokitansky-Kuster-Hauser syndrome was complicated, despite prophylaxis, by extensive pelvic deep venous thrombosis secondary to unsuspected severe inferior ...
Laura Londra   +3 more
doaj   +1 more source

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