46 XY undervirulized male DSD: Reporting a patient with prenatally diagnosed disorder/difference of sex development (DSD) with heterozygous LHCGR mutations

Kiarad Fendereski; John Carey; Kathleen Timme; Katherine Hayes; Jessica Robnett; Anthony Schaeffer

doi:10.1016/j.eucr.2021.101971

46 XY undervirulized male DSD: Reporting a patient with prenatally diagnosed disorder/difference of sex development (DSD) with heterozygous LHCGR mutations

Urol Case Rep. 2021 Dec 6:41:101971. doi: 10.1016/j.eucr.2021.101971. eCollection 2022 Mar.

Authors

Kiarad Fendereski¹, John Carey^{2

3}, Kathleen Timme^{4

3}, Katherine Hayes^{5

3}, Jessica Robnett^{6

3}, Anthony Schaeffer^{1

3}

Affiliations

¹ Division of Urology, Department of Surgery, University of Utah School of Medicine, USA.
² Division of Pediatric Genetics, Department of Pediatrics, University of Utah School of Medicine, USA.
³ Intermountain Primary Children's Hospital Differences in Sex Development Clinic, USA.
⁴ Division of Pediatric Endocrinology, Department of Pediatrics, University of Utah School of Medicine, USA.
⁵ Division of General Obstetrics and Gynecology, Department of Obstetrics and Gynecology, University of Utah School of Medicine, USA.
⁶ Pediatric Behavioral Medicine, Department of Pediatrics, University of Utah School of Medicine, USA.

Abstract

Leydig cell hypoplasia is a rare autosomal recessive condition caused by mutations in luteinizing hormone/chorionic gonadotropin receptor (LHCGR) genes in which 46, XY patients demonstrate a wide spectrum of disorders/differences of sex development (DSD) phenotypes ranging from normal female external genitalia in severe subtypes to micropenis or hypospadias in patients with less severe presentations. Although most patients with LHCGR defects are diagnosed at puberty, here we describe the prenatal diagnosis of 46, XY DSD due to two likely pathogenic variants in LHCGR, one of which has never been reported.

Keywords: DSD, disorder/difference in sex development; Disorder/difference of sex development (DSD); LCH, Leydig cell hypoplasia; LH, luteinizing hormone; LHCGR, luteinizing hormone/chorionic gonadotropin receptor; Leydig cell hypoplasia; Prenatal diagnosis; Pseudohermaphroditism.

Publication types

Case Reports

Abstract

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