Precocious puberty in a case of Simpson–Golabi–Behmel syndrome with a de novo 240-kb deletion including GPC3

Here, we report a Japanese patient with Simpson–Golabi–Behmel syndrome involving a de novo 240-kb deletion including a part of GPC3. The patient showed pre- and postnatal macrosomia associated with coarse face, macrocephaly, supernumerary nipples, and cryptorchidism and characteristically presented...

Descripción completa

Detalles Bibliográficos
Autores principales: Watanabe, Keisuke, Noguchi, Atsuko, Takahashi, Ikuko, Yamada, Mamiko, Suzuki, Hisato, Takenouchi, Toshiki, Kosaki, Kenjiro, Takahashi, Tsutomu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9184466/
https://www.ncbi.nlm.nih.gov/pubmed/35680838
http://dx.doi.org/10.1038/s41439-022-00196-8
Descripción
Sumario:Here, we report a Japanese patient with Simpson–Golabi–Behmel syndrome involving a de novo 240-kb deletion including a part of GPC3. The patient showed pre- and postnatal macrosomia associated with coarse face, macrocephaly, supernumerary nipples, and cryptorchidism and characteristically presented with precocious puberty, mostly evaluated as advanced pubertal age of 15 years at the chronological age of 11.5 years.

Ejemplares similares