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Journal Article
JOURNAL OF NEPAL MEDICAL ASSOCIATION, ISSN 0028-2715, 03/2019, Volume 57, Issue 216, pp. 119 - 122
Gonadal dysgenesis is a rare genetically heterogeneous disorder characterized by underdeveloped ovaries with consequent, impuberism, primary amenorrhea, and... 
Gonadal dysgenesis | primary amenorrhea | MEDICINE, GENERAL & INTERNAL | PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH | Mullerian agenesis | Mayer Rokitansky Kuster Hauser syndrome | 46,XX | Gonadal dysgenesis; Mayer Rokitansky Kuster Hauser syndrome; Mullerian agenesis; primary amenorrhea; 46,XX
Journal Article
International Journal of Gynecological Pathology, ISSN 0277-1691, 2018
Herein, we report a case of a 9-yr-old girl who had a 46, XX peripheral karyotype and apparent developmentally normal ovaries. She presented with abdominal... 
Dissecting gonadoblastoma | Ovary | Teratoma | 46, XX peripheral karyotype | Malignant mixed germ cell tumor | Yolk sac tumor
Journal Article
Journal Article
BMJ Case Reports, ISSN 1757-790X, 2012, Volume 2012, Issue jul18 1, pp. bcr2012006223 - bcr2012006223
A19-year-old man, from a middle east country was referred by his physician to the endocrine department for bilateral gynaecomastia, low libido and sparse... 
Young Adult | Diagnosis, Differential | Chromosomes, Human, X - genetics | Humans | Genotype | In Situ Hybridization, Fluorescence | Male | 46, XX Testicular Disorders of Sex Development - diagnosis | Karyotype | 46, XX Testicular Disorders of Sex Development - genetics | Genotype & phenotype | Testosterone | Androgens | Chromosomes | Men
Journal Article
Urology Case Reports, ISSN 2214-4420, 09/2017, Volume 14, Issue C, pp. 45 - 47
We present a case regarding a 32-year old African male with penoscrotal hypospadias, left cryptorchidism and a left inguinal hernia. There were moderate... 
Cryptorchidism | 46,XX testicular disorder of sex development | Hypospadias | Urethroplasty
Journal Article
Indian Journal of Human Genetics, ISSN 0971-6866, 05/2012, Volume 18, Issue 2, pp. 241 - 245
We report on a Yq/15p translocation in a 23-year-old infertile male referred for Klinefelter Syndrome testing, who had azoospermia and bilateral small testes.... 
Yq;15p translocation | 46 XX male | Fluorescence In Situ Hybridization | azoospermia | infertility | Case studies | Infertility | Karyotypes | Physiological aspects | Genetic aspects | Diagnosis | Risk factors | Genetics | Males | Sperm | Chromosomes | Polymerase chain reaction | Chromosome translocations | Trypsin | Lymphocytes | Fluorescence in situ hybridization | Ova | Testes | chromosome 15 | Hypogonadism | XX male | Case Report
Journal Article
Indian journal of endocrinology and metabolism, ISSN 2230-8210, 10/2013, Volume 17, Issue Suppl 1, pp. S271 - S273
The sex of an embryo is determined by genetic sex due to presence or absence of Y chromosome, but it may not be true in all. We hereby report an interesting... 
Case studies | Usage | Care and treatment | Patient outcomes | Abnormalities | Fluorescence in situ hybridization | Y chromosome | Human chromosome abnormalities | Diagnosis | Health aspects | Risk factors | hypergonadotrophic hypogonadism | Brief Communication | SRY translocation | 46 XX testicular disorder of sex development
Journal Article
Fertility and Sterility, ISSN 0015-0282, 2016, Volume 106, Issue 5, pp. 1190 - 1194
Journal Article
Journal Article
Fertility and Sterility, ISSN 0015-0282, 2005, Volume 83, Issue 1, pp. 201 - 204
To report a rare case of gonadal agenesis with rudimentary paramesonephric ducts derivatives in a female with a 46,XX normal karyotype. Case study. National... 
Gonadal agenesis | 46,XX karyotype | paramesonephric derivatives | REPRODUCTIVE BIOLOGY | gonadal agenesis | AGONADISM | DIFFERENTIATION | OBSTETRICS & GYNECOLOGY | Female | Mullerian Ducts - abnormalities | Gonadal Dysgenesis, 46,XX - genetics | Gonadal Dysgenesis, 46,XX - pathology | Humans | Adolescent
Journal Article
Journal Article
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