Novel homozygous mutation in a colombian patient with persistent müllerian duct syndrome: expanded phenotype

Acero, Mary García; Moreno, Olga; Gutierrez, A.; Sánchez, Clemente Cobos; Cataño, Juan Guillermo; Süárez-Obando, Fernando; Rojas, Alejandra

doi:10.1590/s1677-5538.ibju.2018.0808

Cited by 3 publications

(4 citation statements)

References 16 publications

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“…Adding with our patients in China, there were 93 families with 78 different variants in AMH ( Supplementary Table 2 ) and 94 families with 80 different variants in AMHR2 have been reported ( Supplementary Table 3 ). 6 8 9 10 11 12 13 14 15 16 The relationship between the phenotypes and genotype of all patients was analyzed statistically ( ). There was no significant difference in anatomy between patients with either AMH or AMHR2 variants.…”

Section: Resultsmentioning

confidence: 99%

“…In our literature review, variants of AMH and AMHR2 were reported in 87.9% of all patients and were approximately equally distributed among the genes coding AMH and its type II receptor, AMHR2 . 6 8 9 10 11 12 13 14 15 16 Statistics indicated that AMH presented 78 different variants in 93 families, and 80 different alleles of AMHR2 were discovered in 94 families. In our Chinese patients, mutational analyses revealed possible causative variants in all patients.…”

Section: Discussionmentioning

confidence: 99%

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Surgical management and molecular diagnosis of persistent Müllerian duct syndrome in Chinese patients

Tian

et al. 2022

Asian J Androl

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Persistent Müllerian duct syndrome (PMDS) is a rare clinically and genetically overlapping disorder caused by mutations in the anti-Müllerian hormone ( AMH ) gene or the anti-Müllerian hormone receptor type 2 ( AMHR2 ) gene. Affected individuals present uterus and tubes in normally virilized males and are discovered unexpectedly during other surgeries. Since it is rare and complex, a definitive clinical diagnosis can be missed, and there are no guidelines regarding how to deal with the uterus. In the present study, exome sequencing and Sanger verification were performed for causal variants in 12 PMDS patients. Preoperative diagnoses were made by positive exome sequencing in 8 patients. Of them, 7 patients evoked on the basis of ultrasound indicating bilateral testes on the same side of the body. Twelve different AMH variants (2 frameshift/nonsense, 1 deletion, 8 missense, and 1 in-frame) in 9 patients and 6 different AMHR2 variants (5 missense and 1 splicing) in 3 patients were identified. Seven variants were classified as “pathogenic” or “likely pathogenic”, and 4 of them were novel. All but two patients with AMH defects showed low serum AMH concentrations, but all patients with AMHR2 defects showed elevated AMH levels. During surgery, an abnormal vas deferens was observed in half of the patients. Eight patients underwent orchidopexy with uterine preservation. Of them, 2 patients presented complications including irreducible cryptorchidism, and 3 patients developed Müllerian remnant cysts. Three patients underwent subtotal hysterectomy. Of them, one patient had complication of injury to the vas deferens, and one had hemorrhage after operation. This is the first report of PMDS involving a large Chinese population. The present study not only expands the variation spectrum but also provides clinical experience about the management of the uterus.

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Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Surgical management and molecular diagnosis of persistent Müllerian duct syndrome in Chinese patients

Tian

et al. 2022

Asian J Androl

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“…ciplinary team must intervene to confirm the diagnosis immediately at birth. DSD can also appear during childhood, associated with other syndromic characteristics; during adolescence due to virilization, absence of puberty, or primary amenorrhea; and during adulthood, associated with infertility, gonadal tumors, and other complications (6,9,23). Regardless of the specific needs of each of those groups, a timely multidisciplinary team intervention is always recommended.The results presented herein show us the importance of cytogenetic analyses in the diagnosis of DSD.…”

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confidence: 99%

“…1-12.Mon. : Months, M: male, F: female, RG: right gonad, LG: left gonad * These patients were included in García-Acero et al(23) as part of the recorded medical histories of the patients with chromosomal alterations, analyzed at our institution.…”

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Hallazgos cromosómicos y del gen SRY por FISH en pacientes con trastornos del desarrollo sexual

et al. 2021

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Objetivo Los trastornos del desarrollo sexual son un grupo de enfermedades congénitas que afectan la formación normal de los genitales. Dentro los mecanismos fisiopatológicos descritos existen factores genéticos causados por alteraciones cromosómicas o en los genes determinantes en la diferenciación sexual. En este trabajo se analizaron alteraciones cromosómicas y en el gen SRY como posible causa del trastorno. Se realizó cariotipo con bandas G o R y FISH para SRY en linfocitos, tejido gonadal y tejido escrotal. Materiales y métodos La información clínica de los sujetos de investigación se obtuvo de los informes de los médicos tratantes. En 9 (73%) casos el sexo asignado fue masculino y en 3 (27%) casos fue femenino. 8 de los casos (66%) tuvieron cariotipo 46,XY; 2 casos (17%) 46,XX y en 2 casos (17%) se reportaron mosaicos con presencia de idic(Y). Un solo caso de tejido gonadal mostró mosaicismo debido a la presencia de una línea celular tetraploide. El diagnóstico clínico más frecuente fue de genitales ambiguos en 8 casos (67%). Seguido de hipospadias en 5 casos (41,7%). Conclusiones Los resultados muestran la importancia de aplicar diferentes pruebas citogenéticas en el diagnóstico y la necesidad del seguimiento de los pacientes por un equipo transdisciplinario para abordar estas condiciones clínicas.

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Perfiles clínicos de 28 pacientes con trastornos del desarrollo sexual en un centro de referencia

et al. 2022

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Antecedentes: Los trastornos del desarrollo sexual (TDS) incluyen un grupo de entidades clínicas infrecuentes. La baja prevalencia de estas enfermedades y el impacto social que tienen en la comunidad requieren el registro sistemático de la información clínica de los pacientes. Objetivo: caracterizar el espectro clínico de los casos de trastornos del desarrollo sexual diferentes al síndrome de Turner y Klinefelter valorados en el Hospital Universitario San Ignacio. Métodos: por cada caso se diligenció un formulario electrónico diseñado en la herramienta RedCap®, las variables consideradas para el registro se escogieron siguiendo las recomendaciones del Registro Internacional de Desórdenes de Diferenciación sexual (I-DSD). Resultados: se incluyeron en total 28 pacientes, 2 fueron diagnosticados con un tipo de trastorno de los cromosomas sexuales, 17 fueron diagnosticados con un tipo de trastorno del desarrollo sexual 46,XY y 9 con algún tipo de trastorno del desarrollo sexual 46,XX. Diferentes pruebas moleculares fueron solicitadas en el 96,4% de casos, logrando definir un diagnóstico etiológico en 7/28 de los casos. Conclusiones: nuestros hallazgos resaltan la importancia de los estudios citogenéticos como pruebas de primera línea en el enfoque diagnóstico de pacientes con TDS. Este trabajo es el inicio del primer registro de trastornos del desarrollo sexual no solo institucional sino nacional y muy seguramente aportará bases académicas para la construcción y ejecución de futuras investigaciones que permitan generar recomendaciones basadas en la evidencia para mejorar la atención clínica de los individuos afectados con algún tipo de TDS

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Novel homozygous mutation in a colombian patient with persistent müllerian duct syndrome: expanded phenotype

Cited by 3 publications

References 16 publications

Surgical management and molecular diagnosis of persistent Müllerian duct syndrome in Chinese patients

Surgical management and molecular diagnosis of persistent Müllerian duct syndrome in Chinese patients

Hallazgos cromosómicos y del gen SRY por FISH en pacientes con trastornos del desarrollo sexual

Perfiles clínicos de 28 pacientes con trastornos del desarrollo sexual en un centro de referencia

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