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      Idiopathic Premature Ovarian Failure in 63 Young Women

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          Background: Premature ovarian failure (POF) in adolescents is defined as primary or secondary amenorrhea associated with high follicle-stimulating hormone (FSH) levels. In normal 46,XX patients, its etiology is most often unknown. We have evaluated the clinical, hormonal and ovarian phenotypes in patients with a normal karyotype who were diagnosed with POF before the age of 18. Methods: Sixty-three patients were included in this retrospective study. Results: The mean patient age was 20.4 years. The patients presented with three clinical patterns: lack of pubertal development (n = 23), primary amenorrhea with interrupted puberty (n = 18), and secondary amenorrhea with normal puberty (n = 22). Ten patients had a familial history of POF and 6 presented with hypothyroidism. The FSH, estradiol and inhibin B levels were not statistically different in the three clinical groups. Fifty percent of the patients presented small ovaries (length <2 cm) at ultrasonography. The presence of follicles was found at histology in only 7 of the 27 patients who underwent an ovarian biopsy. Conclusion: 46,XX patients presenting with early POF rarely presented a specific, identifiable disorder. We discuss the clinical management and different diagnosis strategies to improve our current knowledge of this syndrome.

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          Most cited references 18

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          The murine winged-helix transcription factor Foxl2 is required for granulosa cell differentiation and ovary maintenance.

          Human Blepharophimosis/ptosis/epicanthus inversus syndrome (BPES) type I is an autosomal dominant disorder associated with premature ovarian failure (POF) caused by mutations in FOXL2, a winged-helix/forkhead domain transcription factor. Although it has been shown that FOXL2 is expressed in adult ovaries, its function during folliculogenesis is not known. Here, we show that the murine Foxl2 gene is essential for granulosa cell differentiation and ovary maintenance. In Foxl2(lacZ) homozygous mutant ovaries granulosa cells do not complete the squamous to cuboidal transition leading to the absence of secondary follicles and oocyte atresia. We further demonstrate that activin-betaA and anti-Mullerian inhibiting hormone expression is absent or strongly diminished in Foxl2(lacZ) homozygous mutant ovaries. Unexpectedly, two weeks after birth most if not all oocytes expressed Gdf9 in Foxl2(lacZ) homozygous mutant ovaries, indicating that nearly all primordial follicles have already initiated folliculogenesis at this stage. This activation, in the absence of functional granulosa cells, leads to oocyte atresia and progressive follicular depletion. In addition to providing a molecular mechanism for premature ovarian failure in BPES, these results suggest that granulosa cell function is not only crucial for oocyte growth but also to maintain follicular quiescence in vivo.
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            Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure.

            Hypergonadotropic ovarian dysgenesis (ODG) with normal karyotype is a heterogeneous condition that in some cases displays Mendelian recessive inheritance. By systematically searching for linkage in multiplex affected families, we mapped a locus for ODG to chromosome 2p. As the previously cloned follicle-stimulating hormone receptor (FSHR) gene had been assigned to 2p, we searched it for mutations. A C566T transition in exon 7 of FSHR predicting an Ala to Val substitution at residue 189 in the extracellular ligand-binding domain segregated perfectly with the disease phenotype. Expression of the gene in transfected cells demonstrated a dramatic reduction of binding capacity and signal transduction, but apparently normal ligand-binding affinity of the mutated receptor. We conclude that the mutation causes ODG in these families.
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              An update: spontaneous premature ovarian failure is not an early menopause.

              To update clinicians regarding the management of women with spontaneous premature ovarian failure (POF). Literature review and consensus building among three clinicians with experience in caring for women with spontaneous POF. Clearly the ovarian "failure" in this disorder is not permanent in all women. Approximately 5%-10% may conceive spontaneously and unexpectedly after the diagnosis. An integrated approach to management is best, and there is a need to first address physical and mental health issues before addressing plans for family building. Women with spontaneous POF are at increased risk of adrenal insufficiency, which should be detected and managed appropriately, especially before proceeding to ovum or embryo donation procedures. Young women with POF experience pathologically low serum E2 levels at least intermittently. Despite the absence of controlled evidence for this specific population, physiologic replacement of ovarian steroid hormones seems rational until the age of normal menopause. The disorder may be associated with other conditions that require evaluation and management, including hypothyroidism, dry eye syndrome, abnormal karyotype, or a premutation of the FMR1 gene. Finally, clinicians need to be sensitive to the emotional aspects of this disorder when delivering the diagnosis and during subsequent management.

                Author and article information

                Horm Res Paediatr
                Hormone Research in Paediatrics
                S. Karger AG
                February 2006
                23 February 2006
                : 65
                : 2
                : 89-95
                Departments of aEndocrinology and Reproductive Medicine, and bPediatrics, Necker-Enfants Malades Hospital, Faculty of Medicine, Paris V University, Paris, France
                91177 Horm Res 2006;65:89–95
                © 2006 S. Karger AG, Basel

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                Page count
                Figures: 2, Tables: 1, References: 26, Pages: 7
                Original Paper


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