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Anne Bachelot,
Agnès Rouxel,
Nathalie Massin,
Jérome Dulon,
Carine Courtillot,
Christine Matuchansky,
Yasmina Badachi,
Anne Fortin,
Bernard Paniel,
Fabrice Lecuru,
Marie-Aude Lefrère-Belda, Elisabeth Constancis,
Elisabeth Thibault,
Géri Meduri,
Anne Guiochon-Mantel,
Micheline Misrahi,
Frédérique Kuttenn,
Philippe Touraine
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ABSTRACT: Premature ovarian failure (POF) encompasses a heterogeneous spectrum of conditions, with phenotypic variability among patients. The etiology of POF remains unknown in most cases. We performed a global phenotyping of POF women with the aim of better orienting attempts at an etiological diagnosis.
We performed a mixed retrospective and prospective study of clinical, biological, histological, morphological, and genetic data relating to 357 consecutive POF patients between 1997 and 2008. The study was conducted at a reproductive endocrinology referral center.
Seventy-six percent of the patients presented with normal puberty and secondary amenorrhea. Family history was present in 14% of the patients, clinical and/or biological autoimmunity in 14.3%. Fifty-six women had a fluctuating form of POF. The presence of follicles was suggested at ultrasonography in 50% of the patients, and observed in 29% at histology; the negative predictive value of the presence of follicles at ultrasonography was 77%. Bone mineral density alterations were found in 58% of the women. Eight patients had X chromosomal abnormalities other than Turner's syndrome, eight other patients evidenced FMR1 pre-mutation. Two other patients had autoimmune polyendocrine syndrome type 2 and 1.
A genetic cause of POF was identified in 25 patients, i.e. 7% of the whole cohort. POF etiology remains most often undiscovered. Novel strategies of POF phenotyping are in such content mandatory to improve the rate of POF patients for whom etiology is identified.
European Journal of Endocrinology 06/2009; 161(1):179-87. · 3.42 Impact Factor
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Anne Bachelot,
Agnès Rouxel,
Nathalie Massin,
Jérome Dulon,
Carine Courtillot,
Christine Matuchansky,
Yasmina Badachi,
Anne Fortin,
Bernard Paniel,
Fabrice Lecuru,
Marie-Aude Lefrère-Belda, Elisabeth Constancis,
Elisabeth Thibault,
Géri Meduri,
Anne Guiochon-Mantel,
Micheline Misrahi,
Frédérique Kuttenn,
Philippe Touraine
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ABSTRACT: HP, Departments of 4 Radiology and 5 Obstetrics and Gynecology, Groupe Hospitalier Pitié-Salpétrière, 75013 Paris, France, 6 AP-HP, Department of Gynecological Surgery, Centre Hospitalier Intercommunal de Créteil, 94010 Créteil, France, AP-HP, Departments of 7 Gynecological Surgery and 8 Pathology, Hôspital Européen Georges Pompidou, Abstract Objective: Premature ovarian failure (POF) encompasses a heterogeneous spectrum of conditions, with phenotypic variability among patients. The etiology of POF remains unknown in most cases. We performed a global phenotyping of POF women with the aim of better orienting attempts at an etiological diagnosis. Design and methods: We performed a mixed retrospective and prospective study of clinical, biological, histological, morphological, and genetic data relating to 357 consecutive POF patients between 1997 and 2008. The study was conducted at a reproductive endocrinology referral center. Results: Seventy-six percent of the patients presented with normal puberty and secondary amenorrhea. Family history was present in 14% of the patients, clinical and/or biological autoimmunity in 14.3%. Fifty-six women had a fluctuating form of POF. The presence of follicles was suggested at ultrasonography in 50% of the patients, and observed in 29% at histology; the negative predictive value of the presence of follicles at ultrasonography was 77%. Bone mineral density alterations were found in 58% of the women. Eight patients had X chromosomal abnormalities other than Turner's syndrome, eight other patients evidenced FMR1 pre-mutation. Two other patients had autoimmune polyendocrine syndrome type 2 and 1. Conclusion: A genetic cause of POF was identified in 25 patients, i.e. 7% of the whole cohort. POF etiology remains most often undiscovered. Novel strategies of POF phenotyping are in such content mandatory to improve the rate of POF patients for whom etiology is identified.
European Journal of Endocrinology 01/2009; 161:179-187. · 3.42 Impact Factor
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ABSTRACT: To describe a patient with primary amenorrhea revealing an occult progesterone-secreting ovarian tumor.
Case report.
University medical center.
A 20-year-old woman with primary amenorrhea.
Investigations to identify the source of progesterone secretion.
Discovery of an occult progesterone-secreting ovarian tumor.
Initial ovarian ultrasonography did not show any abnormal mass. Catheterization of ovarian veins suggested a right ovarian source of progesterone. After long-term follow-up, a right ovarian tumor became apparent and was surgically removed. After surgery, progesterone levels decreased and normal ovulatory cycles resumed. Pathologic and immunohistochemical analysis showed a Leydig cell tumor expressing cytochrome P450 side-chain cleavage and 3ss-hydroxysteroïd dehydrogenase enzymes, which are involved in progesterone biosynthesis, whereas P45017alpha-hydroxylase was not expressed, explaining the absence of hyperandrogenemia. Before surgery, two LH pulses were detected during a 6-hour study period and a lack of ovarian response to pulsatile GnRH administration.
This is the first case of isolated progesterone secretion by an occult ovarian Leydig cell tumor and a novel etiology of primary amenorrhea. The results also suggest that sustained progesterone can exert an inhibitory effect on gonadotropin secretion at both hypothalamic and pituitary levels.
Fertility and sterility 03/2008; 90(4):1198.e1-5. · 3.97 Impact Factor
