BACKGROUND To evaluate the involvement of immune abnormality in patients with idiopathic premature ovarian insufficiency (POI). In addition to the known etiology, autoimmune disorders may be a pathologic mechanism for POI. MATERIALS AND METHODS Our study was a prospective controlled trial. Twenty women with POI, reasons other than autoimmune excluded, were enrolled in this study. The control ...

Mammalian sex determination involves complex interacting networks of cellular and hormonal signals leading to the development of male or female phenotypes. Three main sequential processes are involved: first, the establishment of chromosomal sex at fecundation (genetic sex); second, the development of the undifferentiated gonad into either testes or ovaries (gonadal sex); and third, differentia...

The agenesis of the Müllerian duct is the second most common cause of primary amenorrhoea after Turner syndrome. The abnormal development of Müllerian duct often associates with the urinary tract and skeletal abnormalities. MURCS (Müllerian duct aplasia-renal agenesis-cervicothoracic somite dysplasia) association is a unique and rare developmental disorder with four common features of uterine h...

Anti-Müllerian hormone (AMH), also known as Müllerian inhibiting substance, is a member of the transforming growth factor beta superfamily of growth and differentiation factors. In contrast to other members of the family, which exert a broad range of functions in multiple tissues, the principal function of AMH is to induce regression of the Müllerian ducts during male sex differentiation. Howev...

Persistent Müllerian duct syndrome (PMDS) is characterized by the presence of a uterus, fallopian tubes, and the upper part of the vagina in phenotypic normal male patients. Here, we report a patient diagnosed with PMDS with a novel homozygous missense mutation in the anti-Müllerian hormone (AMH) gene (single nucleotide insertion (C) at position 208 (c.208dup, p.Leu70fs)) leading to a frameshif...

Introduction Reduction of ovarian reserve has been observed in childhood-onset SLE (c-SLE) and adult SLE populations, and most of them were limited to follicle stimulating hormone (FSH) levels and few recent reports included antral follicle count (AFC) and/or anti-Müllerian hormone (AMH) levels. In addition, the contribution of diminished follicle ovarian pool using anti-corpus luteum antibodie...

Introduction: Thyroid dysfunction is among the most common autoimmune disorders in women of reproductive age. Previous studies have shown the association between autoimmune thyroid disease (AITD) and infertility. Anti-Müllerian hormone (AMH) is secreted by granulosa cells and is a useful marker for assessment of ovarian reserve. In the present study, we sought to evaluate the ovarian reserves o...

Male sex differentiation is driven by 2 hormones, testosterone and anti-müllerian hormone (AMH), responsible for the regression of müllerian ducts in male fetuses. Mutations inactivating AMH or its receptor AMHRII lead to the persistent müllerian duct syndrome (PMDS) in otherwise normally virilized 46,XY males. Our objective was to review the clinical, anatomical, and molecular features of PMDS...