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Turner Syndrome Mosaicism 45,X/46,XY with Genital Ambiguity and Duchenne Muscular Dystrophy: Translational Approach of a Rare Italian Case

Lamanna, Bruno ; Vinciguerra, Marina ; Dellino, Miriam ; Cascella, Gabriele ; Cazzato, Gerardo ; Macorano, Enrica ; Malvasi, Antonio ; Scacco, Salvatore ; Cicinelli, Ettore ; Loizzi, Vera ; Vimercati, Antonella ; Cormio, Gennaro ; Paduano, Francesco ; Cascardi, Eliano ; Tatullo, Marco

International journal of molecular sciences, 2022-11, Vol.23 (22), p.14408 [Periódico revisado por pares]

Switzerland: MDPI AG

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Título:
Turner Syndrome Mosaicism 45,X/46,XY with Genital Ambiguity and Duchenne Muscular Dystrophy: Translational Approach of a Rare Italian Case
Autor: Lamanna, Bruno ; Vinciguerra, Marina ; Dellino, Miriam ; Cascella, Gabriele ; Cazzato, Gerardo ; Macorano, Enrica ; Malvasi, Antonio ; Scacco, Salvatore ; Cicinelli, Ettore ; Loizzi, Vera ; Vimercati, Antonella ; Cormio, Gennaro ; Paduano, Francesco ; Cascardi, Eliano ; Tatullo, Marco
Assuntos: Ambiguity ; ambiguous genitalia ; Biopsy ; Births ; Case Report ; Case reports ; Child, Preschool ; Chromosomes ; Coexistence ; Creatine ; Creatine kinase ; Duchenne muscular dystrophy (DMD) ; Duchenne's muscular dystrophy ; Dystrophin ; Female ; Females ; Fetuses ; Genetic disorders ; Genitalia ; Genotype & phenotype ; Gonadal dysgenesis ; Heredity ; Humans ; Infant, Newborn ; Jumping ; Karyotype ; Karyotypes ; Karyotyping ; Lymphocytes ; Male ; Males ; Mosaicism ; Muscles ; Muscular dystrophy ; Muscular Dystrophy, Duchenne - diagnosis ; Muscular Dystrophy, Duchenne - genetics ; Mutation ; Neuromuscular diseases ; Ovaries ; Sex chromosomes ; Signs and symptoms ; Sterility ; translational medicine ; Turner syndrome (TS) ; Turner Syndrome - genetics ; Turner's syndrome ; Ultrasonic imaging ; Urogenital system ; Uterus ; X chromosomes ; Y chromosomes
É parte de: International journal of molecular sciences, 2022-11, Vol.23 (22), p.14408
Notas: These authors contributed equally to this work.
Descrição: Turner syndrome (gonadal dysgenesis with short stature and sterility) is characterized by chromosomal karyotype 45,X in 50% of cases or by mosaicism (45,X/46,XX and 45,X/46,XY) in 30-40% or X structural defects (deletions, long arm isochromosome, ring chromosome). When mosaic Turner syndrome (TS) occurs with a Y chromosome, there may be ambiguous genitalia. Duchenne muscular dystrophy (DMD) is an inherited neuromuscular disease with an X-Linked recessive pattern of inheritance that predominantly affects males, while females are usually asymptomatic. DMD has also been observed in groups of females affected by TS, not homozygous for the mutation. Here, we report a case of an Indian neonate born with ambiguous genitalia diagnosed prenatally by ultrasound who had a karyotype of 45,X/46,XY and who also had Duchenne muscular dystrophy caused by a de novo mutation in the DMD gene. Physical examination was normal without the typical dysmorphic features of TS with the exception of the genitourinary system showing ambiguous genitalia. Gender was assigned as female. At the age of three years, she had increasing difficulty walking, running, jumping and climbing stairs, proximal upper and lower extremity muscle weakness and a positive Gowers' sign. In addition, the serum creatine kinase (CK) value was over 30X the upper limit of normal. This study shows that DMD can occur in females with TS having 45,X/46,XY mosaicism and that this coexistence should be considered in women affected by TS who start to develop potential typical symptoms such as motor or developmental delay.
Editor: Switzerland: MDPI AG
Idioma: Inglês

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Turner Syndrome Mosaicism 45,X/46,XY with Genital Ambiguity and Duchenne Muscular Dystrophy: Translational Approach of a Rare Italian Case

Lamanna, Bruno ; Vinciguerra, Marina ; Dellino, Miriam ; Cascella, Gabriele ; Cazzato, Gerardo ; Macorano, Enrica ; Malvasi, Antonio ; Scacco, Salvatore ; Cicinelli, Ettore ; Loizzi, Vera ; Vimercati, Antonella ; Cormio, Gennaro ; Paduano, Francesco ; Cascardi, Eliano ; Tatullo, Marco

Switzerland: MDPI AG

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