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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Atypical presentation of central precocious pubert ...
Atypical presentation of central precocious puberty in a patient with RHOA-related disorder
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This case report describes a 3-year-old female patient with a history of central precocious puberty and an abnormal brain MRI. The patient had unilateral breast enlargement and scant pubic hair at 3 years old, along with advanced bone age. The brain MRI revealed asymmetric left cerebral volume loss and enlargement of the left lateral ventricle. The patient had a complicated prenatal and birth history, with the mother having schizoaffective disorder and depression and gestational diabetes. The patient also had a history of mild developmental delays and was adopted at 3 years old after being in multiple foster families. Physical examination revealed facial asymmetry, leg length discrepancy, linear hypopigmentation along Blaschko's lines, café au lait macules, overlapping toes, a broad great toe, short right third toe, and mild fifth finger clinodactyly. These findings raised concerns for a possible mosaic genetic condition, so whole exome sequencing was performed. The sequencing identified a pathogenic variant in the RHOA gene, indicating mosaicism for RHOA-related disorder. This variant was found in skin tissue but not in blood. The RHOA gene variant is associated with a neuroectodermal syndrome characterized by various phenotypic manifestations, including linear hypopigmentation, facial asymmetry, limb length discrepancy, acral anomalies, dental anomalies, alopecia, and brain anomalies. The patient in this case is unique because she presented with central precocious puberty, which has not been previously reported in association with RHOA-related disorder. Further identification of affected individuals will help to better understand the phenotypic manifestations of this disorder.
Asset Subtitle
Co-Author - Evgenia Sklirou; Presenting Author - Ashley Lahr, MS, CGC;
Meta Tag
Brain/Nervous System
Dysmorphology
Etiology
Phenotypic delineation of disorders
Co-Author
Evgenia Sklirou
Presenting Author
Ashley Lahr, MS, CGC
Keywords
central precocious puberty
abnormal brain MRI
unilateral breast enlargement
advanced bone age
facial asymmetry
leg length discrepancy
linear hypopigmentation
RHOA gene
RHOA-related disorder
neuroectodermal syndrome
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