PCOS Chereau A Mmoires pour servir ltude des

Σύνδρομο πολυκυστικών ωοθηκών (PCOS) οι πρώτες περιγραφές • Chereau A. Mémoires pour servir à l'étude des maladies des ovaires. Paris: Fortin, Masson & Cie. 1844. • Rokitansky C. A manual of pathological anatomy-Vol II. Philadelphia: Blanchard & Lea, 1855: 246 (tr. by Edward Sieveking from original German. edition of 1844).

Androgen Excess and PCOS Society Criteria for the diagnosis of PCOS

Two significant issues cloud these deliberations. First, from a practical standpoint, inaccuracies in current assay systems do not allow for a clear cut diagnosis of androgen excess quite often in the absence of skin manifestations. Secondly, androgen excess may sometimes be cryptic and only manifest with ovarian stimulation, for example. Clearly, however, the presence of androgen excess makes most of the traditional features of PCOS(insulin resistance/overweight or obesity) worse or more severe. Thus in the absence of documented androgen excess, if PCOS exists it is mild and therefore subtle. In this setting, does the naming of the phenotype as PCOS matter? Does it affect treatment? More discussion on these points will be forthcoming. However, from a practical standpoint, while the majority of women with this phenotype (but not all) probably have a mild form of PCOS, itis not likely to affect management, at least while they maintain these features. However these patients should not be included in studies which attempt to define the genetics or pathophysiology of PCOS.

Genetic changes which resulted deletion or deficiency of 21 hydroxylase enzyme. Genetic change Mapping Phenotype Enzyme activity A or C G intron 2 Sv/sw minimal ( 1) deletion of pairs and bases exon 3 sw 0 Ile 172 Asn exon 4 sv 3 -7 Ile 236 Asn Val Clu 237 Clu exon 6 sw 0 Met 239 Lys Clu 292 Ser exon 7 sw 0 Arg 356 Trp exon 8 sv/sw 2 Pro 30 Leu exon 1 Nc/sv 30 -60 Val 281 Leu exon 7 Nc 20 -50 Pro 453 Ser exon 10 Nc 20 -50 sw: classical form with salt wasting; sv: simple virilizing form; Nc: non-classical form; cluster

EDITOR’S NOTE: This article is part of a series of continuing education activities in this Journal through which a total of 36 AMA/PRA Category 1 Credits. TM can be earned in 2009. Instructions for how CME credits can be earned appear on the last page of the Table of Contents. Congenital Adrenal Hyperplasia Because of 21 -Hydroxylase Deficiency A Genetic Disorder of Interest to Obstetricians and Gynecologists Eftihios Trakakis, MD, *† Constantine Loghis, MD, † and Demetrios Kassanos, MD† * Volume 64, Number 3 OBSTETRICAL AND GYNECOLOGICAL SURVEY Copyright © 2009 by Lippincott Williams & Wilkins

Unravelling the phenotypic map of polycystic ovary syndrome (PCOS): a prospective study of 634 women with PCOS. Evanthia Diamanti-Kandarakis and Dimitrios Panidis • Patients. Six hundred and thirty-four women with PCOS (18– 35 years) and comparable body mass index (BMI), diagnosed by ESHRE/ASRM criteria, were categorized into two major groups of phenotypes: classic (NIH) and non-classic (ESHRE/ASRM), and then subdivided into phenotypes with all possible combinations of diagnostic characteristics. One hundred and eight healthy women of reproductive age, matched for BMI, were recruited as the control group. • Measurements. Ultrasonographic (ovarian follicle number and volume), hormonal and metabolic parameters.

Unravelling the phenotypic map of polycystic ovary syndrome (PCOS): a prospective study of 634 women with PCOS. Evanthia Diamanti-Kandarakis and Dimitrios Panidis • Results. Classic PCOS phenotype was more frequent (85· 96%) than the non-classic phenotype (14· 04%). The patients were also classified according to the presence of biochemical (80· 60%) or clinical hyperandrogenaemia (12· 62%), and, in the newly introduced group, to absence of evidence of hyperandrogenaemia (6· 78%). Subjects with classic PCOS with biochemical hyperandrogenaemia (74· 76%) were more insulin resistant than controls. In women with PCOS, follicle number was positively related to both insulin resistance and biochemical hyperandrogenaemia. Additionally, women with PCOS had a 6· 58 -fold increased relative risk (RR) of > 12 follicles on intravaginal ultrasound a 2· 94 -fold increased RR of ovarian volume > 10 cm 3 compared to controls. • Conclusion. The most frequent PCOS phenotype is the subgroup with biochemical hyperandrogenaemia only within the classic phenotype, which is more insulin resistant than the control group. The follicle number, a newly introduced ultrasonographic marker, is related to both metabolic and hormonal features of PCOS.

1. The prevalence of non-classical congenital adrenal hyperplasia due to 21 -hydroxylase deficiency in Greek women with hirsutism and polycystic ovary syndrome Eftihios Trakakis , Demetrios Rizos, Costantine Loghis, Athanassios Chryssikopoulos, Marilyn Spyropoulou, Emannuel Salamalekis, George Simeonides, Vassilis Vagopoulos, George Salamalekis, Demetrios Kassanos. Endocrine J 2008 ; 55 : 32 -39 AE-PCOS Quarterly Literature Summary & Review May 2008 Bulent Yildiz, M. D. , Editor. In this issue, Dave Abbott, Kathy Hoeger and Francesco Orio have provided selected commentaries 2. Hemodynamic alterations and wall properties in large arteries of young, normotensive, and non-obese women with polycystic ovary syndrome E. Trakakis, A. Balanika, C. Baltas, C. Loghis, G. Simeonidis, V. Vaggopoulos, O. Papakonstantinou, A. Gouliamos, G. Salamalekis, and D. Kassanos. J Endocrinol Invest 2008 ; 31 : 1001 -1007 AE-PCOS Quarterly Literature Summary & Review November 2008. Steven R. Lindheim, M. D, M. M. M. , Editor