2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-An Exploration of the Neurodevelopmental Phenotype of Two Patients with 48,XXYY During Infancy

Pdf Summary

This case series explores the neurodevelopmental profile of two patients with 48,XXYY, a rare variant of 47,XXY (KS). The phenotype of 48,XXYY includes androgen deficiency, hypogonadism, hypotonia, and an increased incidence of ASD. The patients in this study experienced speech and gross motor dysfunction, as well as significant language-based learning disabilities. The first case had advanced neurodevelopmental abilities attributed to early hormonal therapy (EHT) and reduced medical complications during infancy. The second case did not receive EHT and had significant global developmental delay. Both cases exhibited hypotonia, torticollis, feeding difficulties, and motor deficits. However, only the second case had seizures. The biomarkers for ASD were negative in the first case and low to moderate risk in the second case. These cases highlight the benefits of prenatal detection and a multidisciplinary evaluation for appropriate therapeutic services. Early comprehensive care and consideration of EHT are important for facilitating neurodevelopment in 48,XXYY.

Asset Subtitle

Co-Author - Lindsey Lang, B.A; Co-Author - Andrea L. Gropman, MD, FAAP, FACMG, FANA; Co-Author - Debra Counts, MD; Co-Author - Antonie D. Kline, MD; Co-Author - Francie Mitchell, PT, DPT, PCS; Co-Author - Elizabeth Buscema, MS CCC-SLP; Co-Author - Teresa Sadeghin, MS Ed; Presenting Author - Carole A. Samango-Sprouse, EdD;

Meta Tag

Chromosomal Abnormalities

Noninvasive prenatal screening (NIPS)

Prenatal Diagnosis

Therapy

Co-Author Lindsey Lang, B.A

Co-Author Andrea L. Gropman, MD, FAAP, FACMG, FANA

Co-Author Debra Counts, MD

Co-Author Antonie D. Kline, MD

Co-Author Francie Mitchell, PT, DPT, PCS

Co-Author Elizabeth Buscema, MS CCC-SLP

Co-Author Teresa Sadeghin, MS Ed

Presenting Author Carole A. Samango-Sprouse, EdD

Keywords

neurodevelopmental profile

48,XXYY

47,XXY

KS

androgen deficiency

hypogonadism

hypotonia

ASD

speech dysfunction

gross motor dysfunction