open access

Vol 47, No 5 (2009)
Original paper
Published online: 2010-01-14
Submitted: 2011-12-19
Get Citation

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.

open access

Vol 47, No 5 (2009)
ORIGINAL PAPERS
Published online: 2010-01-14
Submitted: 2011-12-19

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.
Get Citation
About this article
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

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

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