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1. Full Text Total urogenital sinus mobilization for ambiguous genitalia
by Jesus, Vinicius Menezes and Buriti, Francisco and Lessa, Rodrigo and Toralles, Maria Betânia and Oliveira, Luciana Barros and Barroso, Ubirajara
Journal of Pediatric Surgery, ISSN 0022-3468, 04/2018, Volume 53, Issue 4, pp. 808 - 812
Genital ambiguity is a very common phenomenon in disorders of sex development (DSD). According to the Chicago Consensus 2006, feminizing genitoplasty, when... 
Intersex | Disorders of sex development | Congenital adrenal hyperplasia | Urogenital sinus | Genitoplasty | Ambiguous genitalia | SURGERY | REPAIR | URINARY CONTINENCE | PEDIATRICS | FEMINIZING GENITOPLASTY | CLITORIS
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2. Surgical correction of intersexual genitalia and female genital malformation
by Hecker, W. Christian (Waldemar Christian) and Knorr, Dieter
1985, ISBN 9780387153155, ix, 158
Sex Differentiation Disorders | Endocrine Diseases | Surgery | Abnormalities | Pediatric endocrinology | diagnosis | Endocrine aspects | Children | Generative organs, Female | Generative organs | Genitalia, Female
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3. Full Text Cytogenetic profile of patients with clinical spectrum of ambiguous genitalia, amenorrhea, and Turner phenotype: A 21‐year single‐center experience
by Elkarhat, Zouhair and Belkady, Boutaina and Charoute, Hicham and Zarouf, Latifa and Razoki, Lunda and Aboulfaraj, Jamila and Nassereddine, Sanaa and Elbakay, Chadli and Nasser, Boubker and Barakat, Abdelhamid and Rouba, Hassan
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2019, Volume 179, Issue 8, pp. 1516 - 1524
The aim of the present study was to determine the frequency and nature of chromosomal abnormalities involved in patients with the clinical spectrum of... 
chromosomal abnormalities | ambiguous genitalia | amenorrhea | Morocco | Turner syndrome | WOMEN | ABNORMALITIES | GENETICS & HEREDITY | DISORDERS | PREVALENCE | Amenorrhea | Genetic aspects | Reproductive organs | Gonadal dysgenesis | Genotype & phenotype | Sex reversal | Trisomy | Genitalia | Phenotypes | Turner's syndrome | Cytogenetics | Patau's syndrome | Chimerism
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4. Full Text What Term to Choose: Ambiguous Genitalia or Disorders of Sex Development (DSD)?
by Acimi, S
FRONTIERS IN PEDIATRICS, ISSN 2296-2360, 07/2019, Volume 7, p. 316
DSD | feminizing genitoplasty | Chicago consensus | PEDIATRICS | disorders of sex development | ambiguous genitalia | VAGINOPLASTY | masculinized genitoplasty | CHILDREN | Reproductive organs | Research | Children | Health aspects | Analysis
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5. Full Text Sex Assignment and Diagnostics in Infants with Ambiguous Genitalia - A Single-Center Retrospective Study
by van Zoest, Martine and Bijker, Else M and Kortmann, Barbara B.M and Kempers, Marlies and van Herwaarden, Antonius E and van der Velden, Janiëlle and Claahsen-van der Grinten, Hedi L
Sexual Development, ISSN 1661-5425, 10/2019, Volume 13, Issue 3, pp. 109 - 117
Ambiguous genitalia affect 1 in 5,000 live births. Diagnostic procedures can be time-consuming, and often the etiology cannot be established in this group of... 
Original Article | Neonates | NEWBORN | Sex determination | Sex differentiation | INITIAL MANAGEMENT | DISORDERS | DEVELOPMENTAL BIOLOGY | Diagnosis | Disorders of sex development | BIRTH | Ambiguous genitalia | INTERSEX
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6. Full Text Sertoli cell only syndrome with ambiguous genitalia
by Gurbuz, Fatih and Ceylaner, Serdar and Erdogan, Seyda and Topaloglu, Ali Kemal and Yuksel, Bilgin
Journal of Pediatric Endocrinology and Metabolism, ISSN 0334-018X, 07/2016, Volume 29, Issue 7, pp. 849 - 852
The Sertoli cell only syndrome (SCOS) is a rare genetic disorder with a variable phenotype ranging from a severe ambiguous genitalia to a normal male phenotype... 
46,XX boy | Sertoli cell only syndrome | ambiguous genitalia | ONLY SYNDROME | ENDOCRINOLOGY & METABOLISM | INFERTILITY | PEDIATRICS | SRY | Translocation, Genetic | 46, XX Testicular Disorders of Sex Development - physiopathology | Genes, sry | Humans | In Situ Hybridization, Fluorescence | Infant | Male | Sertoli Cell-Only Syndrome - etiology | Chromosomes, Human, X | Chromosomes, Human, Y | Turkey | Consanguinity | Cytogenetic Analysis | 46, XX Testicular Disorders of Sex Development - diagnosis | 46, XX Testicular Disorders of Sex Development - genetics | Case studies | Genetic aspects | Health aspects | Sertoli cells
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7. Full Text Surgical options in disorders of sex development (dsd) with ambiguous genitalia
by Vidal, Isabelle, MD and Gorduza, Daniela Brindusa, MD and Haraux, Elodie, MD and Gay, Claire-Lise, MD and Chatelain, Pierre, MD and Nicolino, Marc, MD and Mure, Pierre-Yves, MD and Mouriquand, Pierre, MD FRCS(Eng), FEAPU
Best Practice & Research: Clinical Endocrinology & Metabolism, ISSN 1521-690X, 2009, Volume 24, Issue 2, pp. 311 - 324
Summary Disorders of sexual development (DSD) include three main groups of patients: (1) The virilised 46,XX DSD essentially represented by congenital adrenal... 
Endocrinology & Metabolism | sexual identity | hypospadias | urethroplasty | mixed gonadal dysgenesis | feminisation | ambiguous genitalia | social identity | congenital adrenal hyperplasia | perineoplasty | urethral plate | clitoral reduction | individual identity | vaginal substitution | masculinisation | vaginoplasty | behavioural identity | SURGERY | CONGENITAL ADRENAL-HYPERPLASIA | FEMINIZING GENITOPLASTY | REPAIR | ENDOCRINOLOGY & METABOLISM | UROGENITAL SINUS MOBILIZATION | UNDESCENDED TESTES | MULLERIAN DUCT SYNDROME | 21-HYDROXYLASE DEFICIENCY | PROXIMAL HYPOSPADIAS | ISLAND FLAP | Gonadal Dysgenesis, 46,XX - surgery | Urethra - surgery | Androgen-Insensitivity Syndrome - drug therapy | Cryptorchidism - surgery | Genitalia - abnormalities | Gonadal Dysgenesis, 46,XY - surgery | Humans | Genitalia - surgery | Hypospadias - surgery | Infant | Male | Androgen-Insensitivity Syndrome - surgery | Gonadal Dysgenesis, Mixed - surgery | Adrenal Hyperplasia, Congenital - surgery | Sexual Development | Disorders of Sex Development - surgery | Penis - surgery | Adult | Female | Child | Infant, Newborn | Development and progression | Genetic disorders
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8. Full Text Parents’ experiences of having a baby with ambiguous genitalia
by Oliveira, Mailme de Souza and de Paiva-e-Silva, Roberto Benedito and Guerra-Junior, Gil and Maciel-Guerra, Andréa Trevas
Journal of Pediatric Endocrinology and Metabolism, ISSN 0334-018X, 07/2015, Volume 28, Issue 7, pp. 833 - 838
Health professionals must be aware of the impact on parents of the birth of children with ambiguous genitalia. This study aimed to analyze the experiences and... 
neonatology | disorders of sex development | ambiguous genitalia | parents | DIAGNOSIS | DISORDERS | CLASSIFICATION | ANDROGEN INSENSITIVITY | NARRATIVES | SEX DEVELOPMENT | ENDOCRINOLOGY & METABOLISM | PEDIATRICS | SURGERIES | Disorders of Sex Development - diagnosis | Cross-Sectional Studies | Humans | Child, Preschool | Infant | Male | Pregnancy | Young Adult | Disorders of Sex Development - psychology | Parents - psychology | Adolescent | Adult | Female | Perception | Surveys and Questionnaires | Infant, Newborn | Physician and patient | Communication in medicine | Diagnosis | Pseudohermaphroditism | Methods
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9. Full Text Steroid 5α-reductase 2 deficiency
by Mendonca, Berenice B and Batista, Rafael Loch and Domenice, Sorahia and Costa, Elaine M.F and Arnhold, Ivo J.P and Russell, David W and Wilson, Jean D
Journal of Steroid Biochemistry and Molecular Biology, ISSN 0960-0760, 10/2016, Volume 163, pp. 206 - 211
Dihydrotestosterone is a potent androgen metabolite formed from testosterone by action of 5α-reductase isoenzymes. Mutations in the type 2 isoenzyme cause a... 
Androgen action | Dihydrotestosterone | Gender identity/behavior | Disorders of sexual differentiation (DSD) | Ambiguous genitalia | 46,XY DISORDERS | BIOCHEMISTRY & MOLECULAR BIOLOGY | LARGE PEDIGREE | REDUCTASE TYPE-2 GENE | 5 ALPHA-REDUCTASE-2 DEFICIENCY | SEX DEVELOPMENT | TURKISH FAMILY | ENDOCRINOLOGY & METABOLISM | GENDER ASSIGNMENT | MALE PSEUDOHERMAPHRODITISM | RAT PROSTATE | 46, XY Disorders of Sex Development - genetics | Gene Expression | Genitalia, Male - abnormalities | Membrane Proteins - genetics | Genitalia, Male - enzymology | Humans | Male | Sex Differentiation | Genitalia, Female - growth & development | 3-Oxo-5-alpha-Steroid 4-Dehydrogenase - deficiency | 46, XY Disorders of Sex Development - psychology | Gender Identity | Membrane Proteins - deficiency | 46, XY Disorders of Sex Development - enzymology | Phenotype | 46, XY Disorders of Sex Development - pathology | Genitalia, Male - growth & development | 3-Oxo-5-alpha-Steroid 4-Dehydrogenase - genetics | Genitalia, Female - enzymology | Quality of Life | Adult | Female | Genitalia, Female - abnormalities | Dihydrotestosterone - metabolism
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10. Full Text Ambiguous genitalia–A social dilemma in Bangladesh: A case report
by Chowdhury, Mohiuddin Ahsanul Kabir and Anwar, Rashidul and Saha, Arnab
International Journal of Surgery Case Reports, ISSN 2210-2612, 2018, Volume 42, pp. 98 - 101
Ambiguous Genitalia is a form of birth defect in which sex of the newborn cannot be readily distinguishable because of atypical appearance of the external... 
Bangladesh | Disorder of sexual development (DSD) | Management | Ambiguous genitalia | Gender assignment
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11. Full Text Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans
by Yokoyama, Minesuke and Kato-Fukui, Yuko and Kitamura, Kunio and Yanazawa, Masako and Suzuki, Rika and Yoshioka, Hidefumi and Kamiirisa, Kyoko and Iizuka-Kogo, Akiko and Kato, Mitsuhiro and Sugiyama, Noriyuki and Kasahara, Megumi and Ogata, Tsutomu and Dobyns, William B and Kamijo, Shin-ichi and Kusaka, Masatomo and Kondo, Ikuko and Miura, Hirohito and Morohashi, Ken-ichirou and Fukuda, Takayuki and Matsuo, Mina and Omichi, Kayo
Nature Genetics, ISSN 1061-4036, 11/2002, Volume 32, Issue 3, pp. 359 - 369
Male embryonic mice with mutations in the X-linked aristaless-related homeobox gene (Arx) developed with small brains due to suppressed proliferation and... 
NEURONAL MIGRATION | CORTICAL INTERNEURONS | DLX GENES | PROTEIN | TELENCEPHALON | GENETICS & HEREDITY | LIS1 | BASAL FOREBRAIN | DIFFERENTIATION | AMBIGUOUS GENITALIA | EXPRESSION | Immunohistochemistry | Neurons - pathology | Epithelial Cells - metabolism | Genitalia - abnormalities | Prosencephalon - abnormalities | Humans | Molecular Sequence Data | Male | Brain - abnormalities | Transfection | Base Sequence | Cell Division | Cell Differentiation | Neurons - metabolism | X Chromosome - genetics | Genetic Linkage | Amino Acid Sequence | Testis - abnormalities | Transcription Factors - physiology | Transcription Factors - genetics | Homeodomain Proteins - genetics | Syndrome | Mice, Knockout | Phenotype | Animals | Testis - pathology | Bromodeoxyuridine - pharmacology | Alleles | Brain - pathology | Mice | Models, Genetic | Mutation | Genetic Vectors | Homeodomain Proteins - physiology | DNA, Complementary - metabolism | Microscopy, Fluorescence | Apoptosis | Cell Movement | Complications and side effects | Genetic aspects | Diagnosis | Gene mutations | Risk factors | Brain diseases
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12. Full Text Practice changes in childhood surgery for ambiguous genitalia?
by Michala, Lina and Liao, Lih-Mei and Wood, Dan and Conway, Gerard S and Creighton, Sarah M
Journal of Pediatric Urology, ISSN 1477-5131, 2014, Volume 10, Issue 5, pp. 934 - 939
Abstract Objective In 2001, this team published an observational study of the clinical outcomes of a cohort of adolescent girls born with ambiguous genitalia.... 
Pediatrics | Urology | Childhood feminising genital surgery | CAH | Disorders of sex development | Ambiguous genitalia | Clitoroplasty | Vaginoplasty | CONSENSUS | UROLOGY & NEPHROLOGY | DISORDERS | PEDIATRICS | Young Adult | Sexual Behavior | Vagina - surgery | Humans | Adolescent | Disorders of Sex Development - surgery | Clitoris - surgery | Female | Treatment Outcome | Practice Patterns, Physicians | Child | Cohort Studies | Teenage girls
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13. Full Text A Novel Sex Chromosome Mosaicism 45, X/45, Y/46, XY/46, YY/47, XYY Causing Ambiguous Genitalia
by Khan, Muhammad Riaz and Bukhari, Ihtisham and Junxiang, Tang and Hui, Liu and Muhammad, Niaz and Fan, Cui and Zhu, Jiangsheng and Wu, Mian
Annals of Clinical and Laboratory Science, ISSN 0091-7370, 11/2017, Volume 47, Issue 6, pp. 761 - 764
Sex chromosomal mosaicism has been considered as a major cause of human sexual differentiation disorders, like partial virilization and ambiguous genitalia.... 
Sex chromosome mosaicism | 45, X/45, Y/46, XY/46, YY/47, XYY | Ambiguous genitalia | Sex Chromosome Mosaicism | PHENOTYPIC FEMALE | Ambiguous Genitalia | X/45 | Y/46 | XY/46 | 45,X/47,XYY MOSAICISM | Y-CHROMOSOME | XYY | KARYOTYPE | MEDICAL LABORATORY TECHNOLOGY | YY/47 | 45,X/46,XY
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14. Full Text Ambiguous genitalia: An overview of 7 years experience at the Children's Hospital & Institute of Child Health, Lahore, Pakistan
by Manzoor, J and Aftab, S and Yaqoob, M
PAKISTAN JOURNAL OF MEDICAL SCIENCES, ISSN 1682-024X, 01/2019, Volume 35, Issue 1, pp. 151 - 155
Objective: To determine the classification and etiological diagnosis of children presented with ambiguous genitalia/atypical genitalia according to the newer... 
ETIOLOGY | MEDICINE, GENERAL & INTERNAL | MANAGEMENT | Congenital Adrenal Hyperplasia | SEX | CONGENITAL ADRENAL-HYPERPLASIA | DISORDERS | Ambiguous genitalia | Disorder of Sex Development | EPIDEMIOLOGY | Reproductive organs | Genetic disorders | Children | Health aspects | Pediatrics | Congenital diseases | Adrenal glands | Childrens health | Births | Defects | Children & youth | Testosterone | Androgens | Etiology | Classification | Chromosomes | Endocrinology
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15. Full Text Genetic approach to ambiguous genitalia and disorders of sex development: What clinicians need to know
by Yatsenko, Svetlana A., MD and Witchel, Selma Feldman, MD
Seminars in Perinatology, ISSN 0146-0005, 2017, Volume 41, Issue 4, pp. 232 - 243
Abstract Genetic tools such as microarray and next-generation sequencing have initiated a new era for the diagnosis and management of patients with disorders... 
Neonatal and Perinatal Medicine | Disorder of sex development | Ambiguous genitalia | Genetic testing SRY | VARIANTS | 46,XY DISORDERS | UPSTREAM | PEDIATRICS | INFANT | OBSTETRICS & GYNECOLOGY | Clinical Competence | 46, XY Disorders of Sex Development - genetics | 46, XX Disorders of Sex Development - genetics | Genetic Testing | Parents - education | 46, XY Disorders of Sex Development - diagnosis | Humans | 46, XX Disorders of Sex Development - diagnosis | Male | Disorders of Sex Development - genetics | 46, XX Disorders of Sex Development - psychology | Genetic Variation - physiology | 46, XY Disorders of Sex Development - psychology | Gender Identity | Point Mutation | Parents - psychology | Sexual Development | Adolescent | Female | Child | Infant, Newborn | Patient Education as Topic | Practice Guidelines as Topic | Genetic research | Medical colleges
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16. Full Text Ambiguous genitalia: A rare case report
by Agarwal, Padam Kumar and Ali, Mustafa and Ranjan, Ritu and Pandey, Ashutosh
Indian Journal of Pathology and Microbiology, ISSN 0377-4929, 01/2016, Volume 59, Issue 1, pp. 72 - 74
Mixed gonadal dysgenesis (MGD) is a rare disorder of sexual development (DSD). A seven-year-old child with vagina and an elongated clitoris looking like a... 
ovotestis | Ambiguous genitalia | histopathology of ovotestis | PATHOLOGY | Disorders of Sex Development - diagnosis | Humans | Karyotyping | Ultrasonography | Disorders of Sex Development - surgery | Female | Male | Laparoscopy | Pelvis - diagnostic imaging | Child | Case studies | Care and treatment | Diagnosis | Research | Ovarian cancer
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17. Penile agenesis
by Bangroo, A.K and Khetri, Ramji and Tiwari, Sashi
Penile agenesis, 12/2005
Penile agenesis is an extremely rare disorder with profound urological and psychological consequences. The goal of treatment is an early female gender... 
Aphallia, Penile agenesis, Ambiguous genitalia
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18. Full Text Approach to Assigning Gender in 46,XX Congenital Adrenal Hyperplasia with Male External Genitalia: Replacing Dogmatism with Pragmatism
by Houk, Christopher P and Lee, Peter A
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 10/2010, Volume 95, Issue 10, pp. 4501 - 4508
The goal of sex assignment is to facilitate the best possible quality of life for the patient. Factors such as reproductive system development, sexual... 
IDENTITY | WOMEN | PSYCHOSEXUAL DEVELOPMENT | INTERSEX CONDITIONS | MANAGEMENT | 21-HYDROXYLASE DEFICIENCY | ENDOCRINOLOGY & METABOLISM | QUALITY-OF-LIFE | CONSENSUS STATEMENT | AMBIGUOUS GENITALIA | SEXUAL ORIENTATION | Gonadal Dysgenesis, 46,XX - diagnosis | Models, Theoretical | Sex Determination Analysis - methods | Gonadal Dysgenesis, 46,XX - complications | Humans | Psychosexual Development - physiology | Male | Adrenal Hyperplasia, Congenital - complications | Genitalia, Male - pathology | Gonadal Dysgenesis, 46,XX - pathology | Pregnancy | Young Adult | Gender Identity | Adrenal Hyperplasia, Congenital - diagnosis | Female | Infant, Newborn
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19. Full Text Update on the surgical approach for reconstruction of the male genitalia
by Romao, Rodrigo L.P., MD and Pippi Salle, Joao L., MD
Seminars in Perinatology, ISSN 0146-0005, 2017, Volume 41, Issue 4, pp. 218 - 226
Abstract The majority of patients with DSD will be found to carry an XY karyotype and be assigned male gender. From a phenotypical standpoint, most will... 
Neonatal and Perinatal Medicine | Intersex | Male | Hypospadias | XY DSD | Surgery | Ambiguous genitalia | DISORDERS | CRYPTORCHIDISM | PENILE PERCEPTION SCORE | PROXIMAL HYPOSPADIAS | OBSTETRICS & GYNECOLOGY | INSTRUMENT | REPAIR | BOYS | PEDIATRICS | COMPLICATION RATES | PATIENT SELF-ASSESSMENT | Decision Making | Guidelines as Topic | Follow-Up Studies | Parents - education | Humans | Urologic Surgical Procedures, Male - methods | Hypospadias - surgery | Infant | Hypospadias - psychology | Genitalia, Male - surgery | Disorders of Sex Development - psychology | Parents - psychology | Time Factors | Disorders of Sex Development - surgery | Androgens - therapeutic use | Female | Disorders of Sex Development - physiopathology | Genitalia, Male - physiopathology | Hypospadias - physiopathology | Patient Education as Topic | Testosterone - therapeutic use | Testosterone | Analysis
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