Premature ovarian failure (POF) is a primary ovarian defect characterized by absent menarche or premature depletion of ovarian follicles before the age of 40 years. However, in several instances the distinction between definitive or intermittent POF may be difficult on clinical bases, therefore the more appropriate term Primary Ovarian Insufficiency (POI) has been recently proposed and will be used in this review. POI is a heterogeneous disorder affecting approximately 1% of women <40 years. The most severe forms present with absent pubertal development and primary amenorrhea, whereas forms with post-pubertal onset are characterized by disappearance of menstrual cycles (secondary amenorrhea) associated with a defective folliculogenesis. POI is generally characterized by low levels of gonadal hormones (estrogens and inhibins) and high levels of gonadotropins (LH and FSH) (hypergonadotropic amenorrhea). Heterogeneity of POI is reflected by the variety of possible causes, including autoimmunity, toxics, drugs, as well as genetic defects. Several data indicate that POI has a strong genetic component. In this manuscript we discuss the X chromosome abnormalities that are associated with POI.

Primary Ovarian Insufficiency : X chromosome defects and autoimmunity / L. Persani, R. Rossetti, C. Cacciatore, M. Bonomi. - In: JOURNAL OF AUTOIMMUNITY. - ISSN 0896-8411. - 33:1(2009 Aug), pp. 35-41.

Primary Ovarian Insufficiency : X chromosome defects and autoimmunity

L. Persani;R. Rossetti;M. Bonomi
2009

Abstract

Premature ovarian failure (POF) is a primary ovarian defect characterized by absent menarche or premature depletion of ovarian follicles before the age of 40 years. However, in several instances the distinction between definitive or intermittent POF may be difficult on clinical bases, therefore the more appropriate term Primary Ovarian Insufficiency (POI) has been recently proposed and will be used in this review. POI is a heterogeneous disorder affecting approximately 1% of women <40 years. The most severe forms present with absent pubertal development and primary amenorrhea, whereas forms with post-pubertal onset are characterized by disappearance of menstrual cycles (secondary amenorrhea) associated with a defective folliculogenesis. POI is generally characterized by low levels of gonadal hormones (estrogens and inhibins) and high levels of gonadotropins (LH and FSH) (hypergonadotropic amenorrhea). Heterogeneity of POI is reflected by the variety of possible causes, including autoimmunity, toxics, drugs, as well as genetic defects. Several data indicate that POI has a strong genetic component. In this manuscript we discuss the X chromosome abnormalities that are associated with POI.
Amenorrhea; Autoimmune oophoritis; BMP15; DIAPH; FMR1; Folliculogenesis; Hypergonadotropic ovarian failure; Ovarian dysgenesis; Premature ovarian failure; Primary ovarian insufficiency; Turner syndrome; X chromosome
Settore MED/13 - Endocrinologia
ago-2009
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/70676
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