1996
DOI: 10.1210/jcem.81.10.8855841
|View full text |Cite
|
Sign up to set email alerts
|

Response to challenge with gonadotropin-releasing hormone agonist in a mother and her two sons with a constitutively activating mutation of the luteinizing hormone receptor--a clinical research center study.

Abstract: The pituitary-gonadal axis was evaluated in a mother after two of her sons with familial male-limited pseudoprecocious puberty were found to have a constitutively activating mutation of the LH receptor (LHR). Genotyping demonstrated that all showed a mutation in one of the two alleles, a substitution of Gly for Asp578 in the sixth transmembrane segment of the LHR. Ovarian function was normal in the 36-yr-old mother as assessed by LH dynamics and FSH and androgen levels throughout the menstrual cycle. Hormonal … Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
2
1
1
1

Citation Types

2
22
0
3

Year Published

2000
2000
2008
2008

Publication Types

Select...
9

Relationship

0
9

Authors

Journals

citations
Cited by 30 publications
(28 citation statements)
references
References 23 publications
2
22
0
3
Order By: Relevance
“…Thus, cAMP production was increased in the absence of added hCG, and at higher hCG concentrations the receptor responded with further increases in cAMP, never reaching the levels attained at maximal response in the non-mutant LH receptor. As noticed in other families (Rosenthal et al 1996), the mother of these two sons was also a carrier of the mutation, indicating that carriership of an activating mutation in the LH receptor gene has no adverse effects on female infertility (Latronico et al 2000).…”
Section: Activating Lh Receptor Mutationsmentioning
confidence: 70%
“…Thus, cAMP production was increased in the absence of added hCG, and at higher hCG concentrations the receptor responded with further increases in cAMP, never reaching the levels attained at maximal response in the non-mutant LH receptor. As noticed in other families (Rosenthal et al 1996), the mother of these two sons was also a carrier of the mutation, indicating that carriership of an activating mutation in the LH receptor gene has no adverse effects on female infertility (Latronico et al 2000).…”
Section: Activating Lh Receptor Mutationsmentioning
confidence: 70%
“…The only activating FSH receptor mutation was identified in a hypophysectomized male who remained fertile despite undetectable gonadotropin levels (28). Activating LH receptor mutations have been described in male-limited precocious puberty, whereas they do not seem to have any particular phenotype in females (29). Hence, in females with McCune-Albright syndrome symptoms might be due mainly to increased FSH signal transduction.…”
Section: Discussionmentioning
confidence: 99%
“…Desta forma, uma inativação inapropriada apenas do LH não deveria causar puberdade precoce em mulheres. De fato, nenhuma evidên-cia de hiperandrogenismo ovariano subclínico foi encontrada em uma mulher portadora da mutação D578G (68). O primeiro caso de tumor de células germinativas testiculares foi publicado em 1998 (69), referindo-se a um paciente com diagnóstico de puberdade precoce familiar masculina diagnosticada aos 27 meses de idade.…”
Section: B -Doenças Endócrinas Causadas Por Mutações Ativadoras (Tabeunclassified