Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2006) 11 P688

ECE2006 Poster Presentations Reproduction (80 abstracts)

Identification and functional study of a new FSH receptor gene mutation in women affected by polycystic ovary syndrome (PCOS)

E Ferrarini 1 , F Jr Orio 2 , S Palomba 3 , T Cascella 2 , A Dimida 1 , S di Biase 4 , D Labella 4 , P Agretti 1 , G de Marco 1 , E Gianetti 1 , P Vitti 1 , A Colao 2 , G Lombardi 2 , E Pucci 1 , A Pinchera 1 & M Tonacchera 1


1Dipartimento di Endocrinologia, Centro di Eccellenza AmbiSEN, Pisa, Italy; 2Dipartimento di Endocrinologia ed Oncologia Molecolare e Clinica, Napoli, Italy; 3Dipartimento di Ginecologia ed Ostetricia, Catanzaro, Italy; 4Mergen, Laboratorio di Biologia Molecolare, Napoli, Italy.


Polycystic ovary syndrome (PCOS) is one of the most common endocrine diseases in women, affecting up to 10% of women in reproductive age. The evidence of polycystic ovaries at ultrasonography has been recently considered as a further criteria to diagnose PCOS. In order to determine whether FSH receptor gene affects hormonal and/or metabolic parameters of PCOS women the presence of FSH receptor gene mutations was investigated. Forthy women aged between 18 and 40 years with polycystic ovaries, body mass index (BMI) >25 kg/m2, testosterone >2.5 nmol/l, sex hormone binding globulin (SHBG) <30 nmol/l, oligoamenorrhea and/or hirsutism were included in this study. All of them had a normal development of secondary sexual characteristics and a normal karyotype (46,XX). Pelvic ultrasonography showed polycystic ovaries of abnormal size. After genomic DNA extraction from peripheral-blood lymphocytes of the women, exons 1–10 of the FSH receptor gene were amplified by PCR by specific primers, and directly sequenced. The genetic analysis showed a mutation of the FSHr in heterozygous state located in exon 10 of the receptor (T411D) in one patient. The parents had only wild-type sequence. The T411D mutation was not present in 30 normal subjects. The functional study of the identified FSHr mutation was performed. The mutated FSHr was obtained by site-directed mutagenesis. COS-7 cells transfected with the wild type FSHr (500 ngr/mL) and the mutated receptor (500 ngr/ml) were used to determine cAMP production after stimulation with increasing concentrations of hrFSH (1–5000 mU/mL) or hrCG (0,1–300.000 mU/mL). The T411D FSHr mutant did not show a different cAMP production in response to hrFSH stimulation with respect to the wtFSH. Very high concentrations of hCG were not able to stimulate cAMP production in COS-7 cells transfected with the mutated receptor.

In conclusion: we identified a FSHr mutation in a patient with PCOS. Transfection studies in eukaryotic cells did not show any modification of the functional properties of the mutated receptor with respect to the wild type.

Volume 11

8th European Congress of Endocrinology incorporating the British Endocrine Societies

European Society of Endocrinology 
British Endocrine Societies 

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