Review Article DOI: 10.18231/2394-2754.2016.0001 Indian Journal of Obstetrics and Gynecology Research 2016;3(4):303-306 303 Anti-mullerian hormone as a diagnostic marker in women with polycystic ovary syndrome Iram Shabir 1 , Sheikh Ishaq 2,* , Arif Akbar Bhat 3 , Roohi Ashraf 4 , Sabhiya Majid 5 1,2,3 Demonstrator, 4 Assistant Professor, 5 Professor & HOD, Dept. of Biochemistry, Govt. Medical College, Srinagar, Kashmir *Corresponding Author: Email: zululubaba@gmail.com Abstract Plasma levels of AMH in women serves as an important biomarker of ovarian reserves and indicates the small follicular growth. The reproductive span in healthy women is predicted by progressive age related decline of plasma AMH levels. The values are low in the clinical condition of diminished ovarian reserve, indicating the presence of few remaining follicles within the ovary. Recent studies have also shown the importance of this hormone in various pathological conditions of ovary including PCOS. In women with PCOS, the small ovarian antral follicles increase and AMH secreted by these developing follicles can be used as an important marker to detect follicular impairment. It is suggested that the increased secretion of LH and/or testosterone may have a positive effect on the secretion of AMH by the ovarian follicles. A positive correlation has also been found between high AMH levels and androgen over-production due to intrinsic defects of thecal cells. In conclusion, high AMH levels have been predicted as a response to various treatments of PCOS, while improvement in various clinical and biochemical parameters have been associated with decline in AMH, thus supporting a very important role of AMH in diagnosis and treatment of PCOS. Keywords: Anti-mullerian hormone; anovulation; Body mass Index; Polycystic ovary syndrome. Review Anti-Mullerian hormone (AMH) also known as Mullerian-inhibiting substance, Mullerian inhibiting factor and Mullerian-inhibiting hormone, is a glycoprotein (140kDa) encoded by AMH gene located on chromosome [19p13.3.] The anti-mullerian hormone interacts directly with a specific AMH type II receptor (encoded by AMHR2 gene on chromosome 12) and thereby exhibits its function. (1) AMH in females is produced by granulosa cells that surround the egg sac within the ovary and in fetal males by sertoli cells during embryogenesis. (2) The differentiation of sex into male and female begins with the secretion of AMH by male fetal sertoli cells and its absence in females. In male sertoli cells, the expression of AMH is activated by SOX9 and regulated by FSH, DAX1, SF1 and GATA factors. (3,4) In its absence the mullerian structures persist and develop into uterus, fallopian tubes and upper part of vagina. (5) Plasma levels of AMH in women serves as an important biomarker of ovarian reserves and indicates the small follicular growth. The intra-follicular concentration of AMH is also dependent on the follicle size. In a normal healthy female; AMH prevents the premature development of follicles and eggs. It works by reducing the number of FSH receptors on ovaries, thus preventing the premature egg development by FSH in each cycle. (6) The levels of AMH remain constant during the menstrual cycle as it is not secreted by primordial follicles or dominant follicle or corpus luteum. (7) However, peak values are observed in early twenties that progressively decrease until menopause. (8) The reproductive span in healthy women is predicted by progressive age related decline of plasma AMH levels. The values are low in the clinical condition of diminished ovarian reserve, indicating the presence of few remaining follicles within the ovary. As AMH is mainly produced by the small antral follicles, it serves as a useful predictor of reproductive span of a women. (9) Recent studies have also shown the importance of this hormone in various pathological conditions of ovaries like the diagnosis and follow-up of ovarian tumors of granulosa cell origin, prognosis of ovarian hyper-stimulation syndrome and polycystic ovary syndrome (PCOS). (10) PCOS is the most common endocrine disorder affecting women in their reproductive years and is characterized by irregular menstrual cycles, chronic anovulation and hyperandrogenism. (11) They exhibit wide range of metabolic disorders that include obesity, metabolic syndrome and the common cause for PCOS in women is hyperandrogenism. (12) About 3-10% of women with PCOS develop metabolic syndrome but the expression is highly variable between the individuals. (13-16) The recent study showed an association of phenotypic heterogeneity with increased and variable AMH levels. According to this study, four PCOS phenotypes were identified based on the combination of anovulation (ANOV), hyperandrogenism (HA), and polycystic ovaries (PCO): phenotype 1 (ANOV + HA + PCO), phenotype 2 (ANOV + HA), phenotype 3 (HA + PCO), and phenotype 4 (ANOV + PCO). Phenotype 1 had high AMH (9.27±8.17 ng/ml) and androgen levels; phenotype 2 had low AMH (4.05±4.12 ng/ml) and were more hirsuite, phenotype 3 had intermediate AMH