A homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired effector activation by the cell surface receptor.

doi:10.1210/mend.12.3.0077

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Article

A homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired effector activation by the cell surface receptor.

Molecular endocrinology (Baltimore, Md.) - 1 Mar 1998

Latronico A C, Chai Y, Arnhold I J, Liu X, Mendonca B B, Segaloff D L

Abstract excerpt

In this report, the genomic DNA was examined from two siblings with gonadal LH resistance. A 46,XY pseudohermaphrodite presented with female external genitalia and his 46,XX sister exhibited menstrual irregularities (oligoamenorrhea) and infertility. Exons 1-11 of the LH receptor (LHR) gene were...

Topics

Adult
Amenorrhea
Cell Membrane
Chorionic Gonadotropin
Cyclic AMP
Disorders of Sex Development
Female
Homozygote
Humans
Male
Mutation
Ovary
Pedigree
Receptors, LH

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Sequence Analysis, DNA

Sequence Deletion

Signal Transduction

Testis

Source

Open in PubMed

Identifiers

PMID: 9514160
DOI: 10.1210/mend.12.3.0077

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9514160-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.