Vol 47, No 5 (2009)
Original paper
Submitted: 2011-12-19
Published online: 2010-01-14
FSHbeta gene mutation in a female with delayed puberty and hypogonadism: response to recombinant human FSH.
M L Kottler, N Richard, O Chabre, S Alain, J Young
DOI: 10.2478/v10042-009-0054-7
·
Folia Histochem Cytobiol 2009;47(5):55-58.
Vol 47, No 5 (2009)
ORIGINAL PAPERS
Submitted: 2011-12-19
Published online: 2010-01-14
Abstract
We report a woman with primary amenorrhoea and infertility associated with an isolated deficiency of pituitary FSH that does not respond to GnRH administration. Serum inhibin B was undetectable and antimullerian hormone (AMH) was within the normal range. Ultra sound examination revealed a small uterus and small ovaries with few small follicles. We identified an homozygous 1-bp (G) deletion at codon 79 in FSHbeta gene suggesting a complete loss of function. The patient underwent studies of ovarian responsiveness to recombinant human FSH according to the following protocol: 150UI/d for five days following by 75 UI/d for 10 days. Estradiol plasma level started to increase from day 5 associated to a sharp increase of inhibine B and a decrease of LH. During the same time, we observed an excessive development of multiple follicles resulting in an arrest of the treatment to avoid hyperstimulation. The present study confirm that follicles up to 5 mm in diameter had developed in the absence of FSH and that FSH is required for the growth of follicles beyond the two-layer granulose stage.
Abstract
We report a woman with primary amenorrhoea and infertility associated with an isolated deficiency of pituitary FSH that does not respond to GnRH administration. Serum inhibin B was undetectable and antimullerian hormone (AMH) was within the normal range. Ultra sound examination revealed a small uterus and small ovaries with few small follicles. We identified an homozygous 1-bp (G) deletion at codon 79 in FSHbeta gene suggesting a complete loss of function. The patient underwent studies of ovarian responsiveness to recombinant human FSH according to the following protocol: 150UI/d for five days following by 75 UI/d for 10 days. Estradiol plasma level started to increase from day 5 associated to a sharp increase of inhibine B and a decrease of LH. During the same time, we observed an excessive development of multiple follicles resulting in an arrest of the treatment to avoid hyperstimulation. The present study confirm that follicles up to 5 mm in diameter had developed in the absence of FSH and that FSH is required for the growth of follicles beyond the two-layer granulose stage.
Title
FSHbeta gene mutation in a female with delayed puberty and hypogonadism: response to recombinant human FSH.
Journal
Folia Histochemica et Cytobiologica
Issue
Vol 47, No 5 (2009)
Article type
Original paper
Pages
55-58
Published online
2010-01-14
Page views
1907
Article views/downloads
1734
DOI
10.2478/v10042-009-0054-7
Bibliographic record
Folia Histochem Cytobiol 2009;47(5):55-58.
Authors
M L Kottler
N Richard
O Chabre
S Alain
J Young