2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Dual Diagnoses of Mosaic <em>SRY</em> Deletion and HSD17B3 Deficiency in a Patient with Discordant Fetal Sex

Dual Diagnoses of Mosaic SRY Deletion and HSD17B3 Deficiency in a Patient with Discordant Fetal Sex

Pdf Summary

This document presents a case study of a patient with two distinct diagnoses related to disorders of sexual differentiation (DSDs). The patient had a low-risk male noninvasive prenatal screening result but was found to have female genitalia on ultrasound. Further evaluation revealed that the patient had a mosaic SRY deletion and HSD17B3 deficiency. The SRY deletion is associated with incomplete gonadal dysgenesis and the presence of a uterus, while the HSD17B3 deficiency results in under-virilization of XY individuals. The patient had absent uterus/ovaries and bilateral testicles on imaging. Genetic testing confirmed the presence of the mosaic SRY deletion and a homozygous pathogenic variant in the HSD17B3 gene.<br /><br />This case highlights the importance of thoroughly evaluating the phenotype of patients with DSDs and conducting further workup if the initial testing does not fully explain the presentation. The patient's unique combination of diagnoses emphasizes the need to consider single gene disorders and the varying management and recurrence risks associated with different etiologies.<br /><br />In conclusion, this case study underscores the significance of a comprehensive understanding of each patient's genotype in managing DSDs and providing appropriate counseling for patients and their families.

Asset Subtitle

Presenting Author - Kathleen Shields, MS; Co-Author - David Rodriguez-Buritica, MD; Co-Author - Laura S. Farach, MD;

Meta Tag

FISH

Genitourinary malformations

Genotype-Phenotype Correlations

Inheritance Patterns

Microarray

Noninvasive prenatal screening (NIPS)

Phenotype

Sequencing

Co-Author David Rodriguez-Buritica, MD

Co-Author Laura S. Farach, MD

Presenting Author Kathleen Shields, MS

Keywords

disorders of sexual differentiation

case study

patient

diagnoses

DSDs

mosaic SRY deletion

HSD17B3 deficiency

incomplete gonadal dysgenesis

under-virilization

genetic testing