Different Clinical Manifestations Related to Subvirilization in Three XY Patients With the Same Pathogenic Variant of Steroidogenic Factor 1.

AACE Clinical Case Reports
Maria Fernanda OchoaAlejandro Martinez

Abstract

During the prenatal period, steroidogenic factor 1 is required for the development of the adrenal glands and for gonadal determination and differentiation, and after birth, it regulates gonadal progenitor cell formation and their survival. Here, we describe the clinical phenotype of three 46,XY patients (2 brothers and an unrelated subject) with disorder of sex development due to the same genetic variant. All patients underwent hormonal and pelvic ultrasound studies. Sequence analysis and deletion/duplication testing of a panel encompassing 8 genes (AR, DHH, MAP3K1, NROB1, SRD5A2, SRY, WT1, and nuclear receptor subfamily 5, group A, member 1 [NR5A1]) were performed in the index cases. All family members were tested for the presence of the NR5A1 variant. A variant previously described as likely pathogenic in NR5A1 (c.251G>A, p.Arg84His) that segregated in 1 family with different degrees of under-virilization was found. The family 1 index case (IV2) and his brother (IV3) had an external masculinization scale score of 5/12, but only the index case had Müllerian remnants; however, the family 2 patient had a milder score of 9/12. The older female relatives of family 1 who harbor this variant experienced premature menopause. To our k...Continue Reading

References

Jan 5, 2000·BJU International·S F AhmedI A Hughes
Apr 5, 2002·The Journal of Clinical Endocrinology and Metabolism·John C AchermannJ Larry Jameson
May 20, 2003·Human Mutation·Peter D StensonDavid N Cooper
Nov 7, 2008·Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation·L Lin, J C Achermann
Nov 17, 2010·Molecular and Cellular Endocrinology·Bruno Ferraz-de-SouzaJohn C Achermann
Aug 28, 2014·American Journal of Medical Genetics. Part a·Lucia PedacePaola Grammatico
Mar 6, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sue RichardsUNKNOWN ACMG Laboratory Quality Assurance Committee
Nov 23, 2017·Nucleic Acids Research·Melissa J LandrumDonna R Maglott
Jun 13, 2018·European Journal of Human Genetics : EJHG·Núria CamatsChrista E Flück

❮ Previous
Next ❯

Related Concepts

Related Feeds

Adult Stem Cells

Adult stem cells reside in unique niches that provide vital cues for their survival, self-renewal, and differentiation. They hold great promise for use in tissue repair and regeneration as a novel therapeutic strategies. Here is the latest research.

Related Papers

Minerva endocrinologica
B Köhler, John C Achermann
Human Mutation
Helena Fabbri-ScalletMaricilda Palandi de Mello
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
Inas MazenKen McElreavey
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
Maria F FaienzaSilvano Bertelloni
© 2021 Meta ULC. All rights reserved