Dataset Information

Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome.

ABSTRACT:

Objective

To test by genomic analysis whether empty follicle syndrome (EFS) in a family with two affected sisters has a genetic basis.

Design

Whole-exome sequencing in the context of clinical genetics.

Setting

University hospital.

Patient(s)

Two women (36 and 32 years old at the time of the study) with EFS.

Intervention(s)

Genetic counseling based on autosomal recessive inheritance.

Main outcome measure(s)

Discovery of a mutation in the LH/choriogonadotropin receptor (LHCGR) as the cause of EFS.

Result(s)

A novel missense mutation in LHCGR, p.N400S, was homozygous in sisters with EFS and/or infertility, but not in their unaffected siblings or parents. The mutation was not present in 500 ancestry-matched control subjects. Asparagine at residue 400 is highly conserved and its substitution by serine predicted to alter critical interactions that stabilize LHCGR.

Conclusion(s)

We describe a genetic basis for EFS and provide strong evidence for the existence of genuine EFS in some patients. A mutation impairing the function of LHCGR explains the lack of response of these patients to repeated administration of ?-hCG.

SUBMITTER: Yariz KO

PROVIDER: S-EPMC3143235 | biostudies-literature | 2011 Aug

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome.

Yariz Kemal O KO Walsh Tom T Uzak Asli A Spiliopoulos Michail M Duman Duygu D Onalan Gogsen G King Mary-Claire MC Tekin Mustafa M

Fertility and sterility 20110617 2

<h4>Objective</h4>To test by genomic analysis whether empty follicle syndrome (EFS) in a family with two affected sisters has a genetic basis.<h4>Design</h4>Whole-exome sequencing in the context of clinical genetics.<h4>Setting</h4>University hospital.<h4>Patient(s)</h4>Two women (36 and 32 years old at the time of the study) with EFS.<h4>Intervention(s)</h4>Genetic counseling based on autosomal recessive inheritance.<h4>Main outcome measure(s)</h4>Discovery of a mutation in the LH/choriogonadot ...[more]

PMID: 21683950

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Project description:17?-estradiol (E2) is an important sex steroid produced by ovary and brain. In mammals, E2 plays an important role in hypothalamus-pituitary-gonad axis to regulate puberty onset, however, little is known about the functional role of E2 in teleost pituitary. Using prepubertal grass carp as model, three nuclear estrogen receptors (nERs: estrogen receptor alpha, estrogen receptor beta 1, and estrogen receptor beta 2) and two G protein-coupled estrogen receptors (GPER1: GPER1a and GPER1b) were isolated from grass carp pituitary. Tissue distribution analysis indicated that both nERs and GPERs were highly detected in grass carp pituitary, which suggested that E2 should play an important role in grass carp pituitary. Using primary cultured grass carp pituitary cells as model, high-throughput RNA-seq was used to examine the E2-induced differentially expressed genes (DEGs). Transcriptomic analysis showed that E2 could significantly upregulate the expression of 28 genes in grass carp pituitary cells, which were characterized into different functions including reproduction, gonad development, and central nervous system development. Further studies confirmed that E2 could induce luteinizing hormone (LH) and follicle-stimulating hormone (FSH) secretion and mRNA expression in prepubertal grass carp pituitary in vivo and in vitro. In the pituitary, LH and FSH regulation by E2 were mediated by both ER? and GPER1. Apparently, E2-induced LH? and FSH? mRNA expression were mediated by adenylyl cyclase/cAMP/protein kinase A, phospholipase C/inositol 1,4,5-triphosphate/protein kinase C, and Ca2+/calmodulin/CaM-dependent protein kinase II pathways. In addition to LH and FSH, E2 could also induce growth regulation by estrogen in breast cancer 1 (a novel regulator for pituitary development) mRNA expression in grass carp pituitary cells. These results, as a whole, suggested that E2 could play an important role in gonadotropin hormone release and pituitary development in prepubertal grass carp.

Dataset Information

Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome.

Objective

Design

Setting

Patient(s)

Intervention(s)

Main outcome measure(s)

Result(s)

Conclusion(s)

Publications

Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome.

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