نتایج جستجو برای: chromosomal abnormalitiescytogenetic studyirankaryotypingprimary amenorrhea

تعداد نتایج: 49777  

2014
Su-Kyoung Kwon Hee-Dong Chae Kyung-Hee Lee Sung-Hoon Kim Chung-Hoon Kim Byung-Moon Kang

OBJECTIVE To investigate the causes of amenorrhea in Korean women. METHODS Medical records from 1,212 women with amenorrhea who visited the Department of Obstetrics and Gynecology, Asan Medical Center, between January 1989 and December 2011 were retrospectively reviewed. Amenorrhea was categorized as either primary or secondary. RESULTS Primary amenorrhea was identified in 132 of the patien...

2015
Demetra Socolov Elena Mihălceanu Diana Popovici Eusebiu Vlad Gorduza Raluca Balan Violeta Martiniuc Răzvan Socolov

Triploidy is a numerical chromosomal anomaly characterized by the presence of three sets of haploid chromosomes. The incidence is hard to evaluate, because usually it causes 1st trimester miscarriage. At 20 weeks of amenorrhea the incidence of triploidy is estimated at 1/250,000 cases. We present 4 cases of triploidy diagnosed during the decade 2003-2013 in the Prenatal Diagnosis Department of ...

2017
Richa Jha

Background: The objectives of this study were to determine the etiologic causes of amenorrhea, the prevalence of müllerian anomalies as a cause of primary amenorrhea and the different varieties of müllerian anomalies causing primary amenorrhea. Methods: This study included all the women presenting with primary amenorrhea who presented to the department of obstetrics and gynecology, Nalanda Medi...

2014
Otilia Mărginean Giorgiana Brad Cristina Gug

Introduction: During puberty, menarche represents the most important event in females. Amenorrhea is defined as the absence of menstruation during puberty. Aim: To evaluate the adolescents with amenorrhea and to analyzed the management of these patients. Material and method: We analyzed 216 patients admitted to the Endocrinology Department over a period of five years, from 2007 to 2012. The stu...

Journal: :Annals of the New York Academy of Sciences 2008
Neville H Golden Jennifer L Carlson

Menstrual irregularity is a common occurrence during adolescence, especially within the first 2-3 years after menarche. Prolonged amenorrhea, however, is not normal and can be associated with significant medical morbidity, which differs depending on whether the adolescent is estrogen-deficient or estrogen-replete. Estrogen-deficient amenorrhea is associated with reduced bone mineral density and...

2016
He Huang Qinjie Tian

INTRODUCTION Disorders of sex development (DSD) is a congenital condition in which the development of chromosomal, gonadal or genital sex is atypical. Majority of patients present clinical characteristics of primary amenorrhea, absent secondary sex characters, and abnormal hormone level. A female appearance patient with primary amenorrhea and 46 XY karyotype seems to be solid evidences to diagn...

Journal: :International Journal of Community Medicine and Public Health 2022

Background: Sex chromosome aneuploidies (SCAs) are characterized by the gain or loss of entire parts sex chromosomes.Methods: In 5212 cases studied over last 10 years in Medical Genetics Department, we found 3793 (72.78%) other chromosomal establishments and 1419 (27.22%) using retrospective archive-file scanning method.Results: 839 (31.32%) with anomalies were female, 580 (22.8%) male. While T...

Journal: :Journal of medical genetics 1967
M J Thorburn C G Miller P Dovey

Morphological abnormalities of the X chromosome are well documented and have been extensively reviewed and discussed by Ferguson-Smith (1965). They include isochromosome of the long arm, deletions of the long and short arms, ring chromosomes, and chromosomal fragments. Other types of abnormality are rare. Engel and Forbes (1965) described a chromatin negative girl (Patient No. 27) with a mosaic...

Journal: :Cytogenetic and genome research 2012
J-W Kim S-Y Park H-M Ryu D-E Lee B-Y Lee S-Y Kim Y-S Park H-S Lee J-T Seo

Structural abnormalities include various types of translocations, inversions, deletions, duplications and isochromosomes. Structural abnormalities of the Y chromosome are estimated to affect less than 1% of the newborn male population and are particularly hazardous for male reproductive function. The objective of this study was to characterize a group of patients with structural abnormalities o...

Journal: :Journal of Korean Medical Science 2001
J. K. Lee J. H. Kim J. S. Kim T. S. Kim S. Jung S. H. Kim S. S. Kang J. H. Lee

Amenorrhea is rarely presented as a manifestation of endocrinological disturbances in patients of chronic hydrocephalus. We describe two cases of secondary amenorrhea caused by hydrocephalus due to aqueductal stenosis. Two female patients of age 30 and 20 yr presented with amenorrhea and increasing headache. Magnetic resonance images revealed marked, noncommunicating hydrocephalus without any t...

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