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■ Abbreviation / Long Form : DSD / disorders of sex development

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Total Number of Papers: 647
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Abbreviation:   DSD  (>> Co-occurring Abbreviation)
Long Form:   disorders of sex development
 Abbreviation Variation
 Long Form Variation
 Pair(Abbreviation/Long Form) Variation
No. Year Title Co-occurring Abbreviation
2020 17beta-hydroxysteroid dehydrogenase type 3 deficiency: female sex assignment and follow-up. Delta4-A
2020 5alpha-Reductase type 2 deficiency in families from an isolated Andean population in Venezuela. ---
2020 Characterization of A Homozygous Deletion of Steroid Hormone Biosynthesis Genes in Horse Chromosome 29 as A Risk Factor for Disorders of Sex Development and Reproduction. ---
2020 Clinical, cytogenetic and molecular genetic characterization of a tandem fusion translocation in a male Holstein cattle with congenital hypospadias and a ventricular septal defect. BTA
2020 Disorder of sex development with germ cell tumors: Which is uncovered first? GCT
2020 Disorders of Sexual Development: Current Status and Progress in the Diagnostic Approach. ---
2020 Disorders or Differences of Sex Development? Views of Affected Individuals on DSD Terminology. ---
2020 Functional study of a novel c.630delG (p.Y211Tfs*85) mutation in NR5A1 gene in a Chinese boy with 46,XY disorders of sex development. SF-1
2020 Gender Identity and Assignment Recommendations in Disorders of Sex Development (DSD) Patients: 20 years’ Experience and Challenges ---
10  2020 Isolated 17,20-Lyase Deficiency in a CYB5A Mutated Female With Normal Sexual Development and Fertility. ---
11  2020 Male Hypogonadism and Disorders of Sex Development. AMH
12  2020 Novel compound variants of the AR and MAP3K1 genes are related to the clinical heterogeneity of androgen insensitivity syndrome. AIS, AR, WES
13  2020 NR5A1 Gene Variants: Variable Phenotypes, New Variants, Different Outcomes. ---
14  2020 Observational study of disorders of sex development in Yaounde, Cameroon. CAH, ESPE, LWPES
15  2020 P450 Oxidoreductase Deficiency: A Systematic Review and Meta-analysis of Genotypes, Phenotypes, and Their Relationships. ---
16  2020 Psychiatric view for disorders of sex development: a 12-year experience of a multidisciplinary team in a university hospital. ADHD, ASD
17  2020 Six novel Mutation analysis of the androgen receptor gene in 17 Chinese patients with androgen insensitivity syndrome. AIS, AR
18  2020 Testicular disorder of sexual development with cryptorchidism, penile hypoplasia and hypospadias in a giraffe (Giraffa camelopardalis giraffa). ---
19  2020 Women With Amenorrhea and Men With Menstruation: The Qualitative Experiences of People With Disorders of Sex Development in Nigeria. ---
20  2019 46,XX Testicular Disorder of Sex Development (DSD): A Case Report and Systematic Review. IIEF, SRY
21  2019 46,XY complete gonadal dysgenesis in a familial case with a rare mutation in the desert hedgehog (DHH) gene. Dhh, WES
22  2019 A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor-1 (WT1) pathogenic variant. WT1
23  2019 A Clinical Approach to Diagnosis of Ambiguous Genitalia. ---
24  2019 A duplication upstream of SOX9 associated with SRY negative 46,XX ovotesticular disorder of sex development: A case report CGH, SOX9, SRY
25  2019 A Follow-Up from Infancy to Puberty in a Japanese Male with SRY-Negative 46,XX Testicular Disorder of Sex Development Carrying a p.Arg92Trp Mutation in NR5A1. ---
26  2019 A Novel Homozygous CYP19A1 Gene Mutation: Aromatase Deficiency Mimicking Congenital Adrenal Hyperplasia in an Infant without Obvious Maternal Virilisation ACTH, CAH
27  2019 A rare cause of delayed puberty in two cases with 46,XX and 46,XY karyotype: 17 alpha-hydroxylase deficiency due to a novel variant in CYP17A1 gene. CAH
28  2019 Ambiguous genitalia: An overview of 7 years experience at the Children's Hospital & Institute of Child Health, Lahore, Pakistan. ---
29  2019 Analysis of Presentations and Outcomes of Care of Children with Disorders of Sexual Development in a Nigerian Hospital. ---
30  2019 Analysis of testosterone pathway genes in dogs (78,XY; SRY-positive) with ambiguous external genitalia revealed a homozygous animal for 2-bp deletion causing premature stop codon in HSD17B3. ---
31  2019 Association between polymorphisms in the SOX9 region and canine disorder of sex development (78,XX; SRY-negative) revisited in a multibreed case-control study. CNV, ddPCR, FISH
32  2019 Autologous buccal mucosa graft for primary and secondary reconstruction of vaginal anomalies. ---
33  2019 Autopsy findings of ectodermal dysplasia and sex development disorder in a fetus with 19q12q13 microdeletion. ---
34  2019 Clinical and genetic analysis in males with 46,XX disorders of sex development: A reproductive centre experience of 144 cases. ART, AZF, FSH, LH, SRY
35  2019 Compound heterozygous mutations in the luteinizing hormone receptor signal peptide causing 46,XY disorder of sex development. LHCGR
36  2019 Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro-oculo-facio-skeletal syndrome. FA, MMC
37  2019 Development of a decision support tool in pediatric Differences/Disorders of Sex Development. DST
38  2019 Different Clinical Presentations and Management in Complete Androgen Insensitivity Syndrome (CAIS). CAIS, HRT, MRI, TGCT
39  2019 Disorders of sex development (DSD) web-based information: quality survey of DSD team websites. DSD-TRN, PEMAT, SMOG
40  2019 Disorders of Sex Development Are an Emerging Problem in French Bulldogs: A Description of Six New Cases and a Review of the Literature. ---
41  2019 Disorders of Sex Development: A 10 Years Experience with 73 Cases from the Kashmir Valley. 5alpha-RD, CAH
42  2019 Duplication of The SOX3 Gene in an Sry-negative 46,XX Male with Associated Congenital Anomalies of Kidneys and the Urinary Tract: Case Report and Review of the Literature. CNV
43  2019 Ethical issues with early genitoplasty in children with disorders of sex development. ---
44  2019 Etiology and Clinical Presentation of Disorders of Sex Development in Kenyan Children and Adolescents. GCH
45  2019 Female fertility preservation in DSD. ---
46  2019 Frequency of Ambiguous Genitalia in 14,177 Newborns in Turkey. ---
47  2019 Growth Pattern in Chinese Children With 5alpha-Reductase Type 2 Deficiency: A Retrospective Multicenter Study. 5alphaRD, BA, BA/CA, DHT, EMS, FSH, GP, hCG, HtSDS, LH, WtSDS
48  2019 Hormones and their Structural and Functional Effects on the Brain: How Can We Change our Practice Moving Forward? ---
49  2019 Incidence of disorders of sexual development in neonates in Ghana: prospective study. CAH
50  2019 Initial assessment of a child with suspected disorder of sex development. CAH, hCG
51  2019 Large divergence in testosterone concentrations between men and women: Frame of reference for elite athletes in sex-specific competition in sports, a narrative review. PCOS
52  2019 Male patient 46,XX SRY-negative and unambiguous genitalia: A case report ---
53  2019 Misdiagnosis of Mullerian agenesis in a patient with 46, XX gonadal dysgenesis: a missed opportunity for prevention of osteoporosis. MRKH
54  2019 Molecular Cytogenetic Characterization of a Karyotype of a Female Patient with Secondary Amenorrhea with a Cell Line Showing 46,X,+mar. ---
55  2019 Molecular diagnostics of disorders of sexual development: an Indian survey and systems biology perspective. ---
56  2019 Molecular genetics of hypospadias and cryptorchidism recent developments. ---
57  2019 New insights from unbiased panel and whole-exome sequencing in a large Chinese cohort with disorders of sex development. TPS, WES
58  2019 Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD). DSDs, NGS, VOUS
59  2019 Novel NR5A1 Pathogenic Variants Cause Phenotypic Heterogeneity in 46,XY Disorders of Sex Development. ---
60  2019 Outcome of feminizing genital reconstruction in female sex assigned disorder of sex development in a low-income country. ---
61  2019 Patient with Disorders of Sex Development (DSD): A Case Report from a Tertiary Care Hospital in Thiruvananthapuram, India. FISH
62  2019 Perineal hypospadias repair with preservation of a coincidental vagina or perineal utricle in boys with disorders of sex development. ---
63  2019 Persistent Mullerian duct Syndrome in a Brazilian miniature schnauzer dog. MS, PMDS
64  2019 Persistent Müllerian duct syndrome in a beluga whale Delphinapterus leucas. PMDS
65  2019 Polymorphisms of MAMLD1, SRD5A2, and AR Candidate Genes in Seven Dogs (78,XY; SRY-Positive) Affected by Hypospadias or Cryptorchidism. ---
66  2019 Predicting Gonadal Germ Cell Cancer in People with Disorders of Sex Development; Insights from Developmental Biology. GGCC
67  2019 Prenatal and postnatal imaging techniques in the evaluation of disorders of sex development. ---
68  2019 Prevalence and surgical management of pubic hypertrophy in hypospadias patients: results from a high-volume surgeon. MLR, OR, OR
69  2019 Primary gonadal failure. ---
70  2019 Psychosexual Aspects, Effects of Prenatal Androgen Exposure, and Gender Change in 46,XY Disorders of Sex Development. ---
71  2019 Pubertal outcomes and sex of rearing of patients with ovotesticular disorder of sex development and mixed gonadal dysgenesis. MGD
72  2019 Regulation of anti-Mullerian hormone (AMH) in males and the associations of serum AMH with the disorders of male fertility. AMH, FSH, PMDS
73  2019 Role of epigenetic regulation in mammalian sex determination. ---
74  2019 Similar Cause, Different Phenotype: SOX9 Enhancer Duplication in a Family. chr17, CNV, kbp, SRY
75  2019 Somatic mosaicism of androgen receptor gene in an androgen insensitivity syndrome patient conceived through assisted reproduction technique. AIS, AR, ART, CAIS, IVF
76  2019 Surgical management of hypospadias in cases with concomitant disorders of sex development. HP, post-UPC, UP
77  2019 The crucial role of SRY gene in the determination of human genetic sex: 46,XX disorder of sex development. SRY
78  2019 The Role of International Databases in Understanding the Aetiology and Consequences of Differences/Disorders of Sex Development. I-CAH, I-DSD
79  2019 Unbalanced Y;7 Translocation between Two Low-Similarity Sequences Leading to SRY-Positive 45,X Testicular Disorders of Sex Development. SRY
80  2019 Uncertainty and Posttraumatic Stress: Differences Between Mothers and Fathers of Infants with Disorders of Sex Development. PTSS
81  2019 Uterus in mixed gonadal dysgenesis was detected by continuous irregular vaginal bleeding. ---
82  2019 Utility of a Commercially Available Blood Steroid Profile in Endocrine Practice. CAH
83  2019 Utilization of a shared decision-making tool in a female infant with congenital adrenal hyperplasia and genital ambiguity. CAH, SDM
84  2019 Vaginoplasty and creating labia minora in children with disorders of sex development. ---
85  2019 Voice dissatisfaction in individuals with a disorder of sex development. ---
86  2019 What Term to Choose: Ambiguous Genitalia or Disorders of Sex Development (DSD)? ---
87  2019 Why pediatricians need to know the disorders of sex development: experience of 709 cases in a specialized service. ---
88  2019 [Gender selection and postoperative follow-up analysis in 85 children with 46, XY disorders of sex development]. ---
89  2019 [Preliminary investigation of gender assignment in 46,XY disorders of sex development with severe male undermasculinisation]. EMS, MDT
90  2019 [Progress on evaluation, diagnosis and management of disorders of sex development]. MDT
91  2018 A Case of Two Sisters Suffering from 46,XY Gonadal Dysgenesis and Carrying a Mutation of a Novel Candidate Sex-Determining Gene STARD8 on the X Chromosome. ---
92  2018 A challenging case of primary amenorrhoea. CYP17A1
93  2018 A collection of XY female cell lines. ---
94  2018 A de novo derivative Y chromosome (partial Yq deletion and partial duplication of Yp and Yq) in a female with disorders of sex development. ---
95  2018 A Human Gonadal Cell Model From Induced Pluripotent Stem Cells. CLDN11, HFs, HSerCs, SLC, SOX9, VIM
96  2018 A Novel Mutation in the Critical P-Box Residue of Steroidogenic Factor-1 Presenting with XY Sex Reversal and Transient Adrenal Failure. SF1, NR5A1
97  2018 A novel, homozygous mutation in desert hedgehog (DHH) in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report. Dhh, MPS
98  2018 A rare cause of primary adrenal insufficiency due to a homozygous Arg188Cys mutation in the STAR gene. FGD, LCAH, PAI, StAR
99  2018 A Search for Disorders of Sex Development among Infertile Men. ---
100  2018 Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in CYP11A1 Gene. PAI