Expanding the reproductive organ phenotype of CHD7-spectrum disorder.

Autor: Nomakuchi TT; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Danowitz M; Division of Endocrinology, Children's Hospital of Philadelphia, Philadelphia, USA., Stewart B; Human Genetics Unit, University of Edinburgh, Edinburgh, Scotland, United Kingdom., Leonard J; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Izumi K; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Krantz I; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Kolon TF; Division of Urology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Langdon D; Division of Endocrinology, Children's Hospital of Philadelphia, Philadelphia, USA., Skraban C; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Van Batavia J; Division of Urology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Zackai E; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Jiao K; Center for Biotechnology & Genomic Medicine, Medical College of Georgia at Augusta University, Augusta, GA, USA., Linn R; Division of Pathology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Alexander C; Division of Pathology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Zaontz M; Division of Urology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Vogiatzi MG; Division of Endocrinology, Children's Hospital of Philadelphia, Philadelphia, USA., Pyle LC; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Rare Disease Institute and Center for Genetic Medicine Research, Children's National Hospital, Washington, DC, USA.; Department of Genomics and Precision Medicine, George Washington University, Washington, DC, USA.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2023 May; Vol. 191 (5), pp. 1418-1424. Date of Electronic Publication: 2023 Feb 16.
DOI: 10.1002/ajmg.a.63148
Abstrakt: CHD7 disorder is a multiple congenital anomaly syndrome with a highly variable phenotypic spectrum, and includes CHARGE syndrome. Internal and external genital phenotypes frequently seen in CHD7 disorder include cryptorchidism and micropenis in males, and vaginal hypoplasia in females, both thought to be secondary to hypogonadotropic hypogonadism. Here, we report 14 deeply phenotyped individuals with known CHD7 variants (9 pathogenic/likely pathogenic and 5 VOUS) and a range of reproductive and endocrine phenotypes. Reproductive organ anomalies were observed in 8 of 14 individuals and were more commonly noted in males (7/7), most of whom presented with micropenis and/or cryptorchidism. Kallmann syndrome was commonly observed among adolescents and adults with CHD7 variants. Remarkably, one 46,XY individual presented with ambiguous genitalia, cryptorchidism with Müllerian structures including uterus, vagina and fallopian tubes, and one 46,XX female patient presented with absent vagina, uterus and ovaries. These cases expand the genital and reproductive phenotype of CHD7 disorder to include two individuals with genital/gonadal atypia (ambiguous genitalia), and one with Müllerian aplasia.
(© 2023 Wiley Periodicals LLC.)
Databáze: MEDLINE
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