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Abbreviation : DSD
Long Form : disorders of sexual differentiation
No. Year Title Co-occurring Abbreviation
2020 Haematological chimerism masquerading as disorder of sex development. ---
2019 Disorders Of Sex Differentiation: Evaluation And Management, A Dilemma. ---
2019 Molecular investigation of mutations in androgen receptor and 5-alpha-reductase-2 genes in 46,XY Disorders of Sex Development with normal testicular development. AIS, AR
2019 Novel Compound Heterozygous Variants in the LHCGR Gene in a Genetically Male Patient with Female External Genitalia LCH
2019 Novel Genotype in Two Siblings with 5-alpha-reductase 2 Deficiency: Different Clinical Course due to the Time of Diagnosis. 5-ARD, aCGH, MLPA, PCR, RN Macedonia
2019 Persistent Mullerian Duct Syndrome: A rare clinical entity. PMDS
2019 Sex assignment practice in disorders of sexual differentiation: survey results from paediatric endocrinologists in the Arab region. 5alpha RD, CAH, CAIS
2019 The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature. array-CGH, CNVs, SCA, SNVs
2018 Hernia uteri inguinalis in ovotesticular disorder of sexual differentiation: A rare complication and role of imaging. ---
10  2018 Newly Identified t(2;17)(p15;q24.2) Chromosomal Translocation Is Associated with Dysgenetic Gonads and Multiple Somatic Anomalies. CD, PRS, SRY, TOF
11  2018 Novel compound heterozygous variants in the LHCGR gene identified in a subject with Leydig cell hypoplasia type 1. LCH, LHCGR
12  2018 [Disorders of sexual differentiation in children: a critical look at open questions (part I)]. CAH
13  2018 [Disorders of sexual differentiation in children: a critical look at open questions (part II)]. ---
14  2016 [Clinical evaluation and management of neonates with disorder of sexual development]. ---
15  2015 A case of true hermaphroditism presenting as a testicular tumour. ---
16  2015 Case report: long-term follow-up of a 45,X male with SHOX haploinsufficiency. rhGH, SHOX, SRY
17  2015 Concepts and Updates in the Evaluation and Diagnosis of Common Disorders of Sexual Development. ---
18  2015 Disorders of Sexual Differentiation: Ethical Considerations Surrounding Early Cosmetic Genital Surgery. ---
19  2014 5 alpha-reductase type 2 deficiency: response to dihydrotestosterone gel. 5alpha-R, DHT
20  2014 [Congenital adrenal hyperplasia in girls/young women]. CAH
21  2013 Disorders of sexual differentiation: I. Genetics and pathology. ---
22  2013 Disorders of sexual differentiation: II. Diagnosis and treatment. ---
23  2013 Rare association in a female DSD case of phallus, accessory phallic urethra, perineal lipoma and anterior ectopic anus. ---
24  2013 Secondary vaginoplasty for disorders for sexual differentiation: is there a right time? Challenges with compliance and follow-up at a multidisciplinary center. ---
25  2013 Seedless orchids: Issues in the anorchid adult. ---
26  2013 Utility of OCT3/4, TSPY and beta-catenin as biological markers for gonadoblastoma formation and malignant germ cell tumor development in dysgenetic gonads. GB
27  2012 46XY girls: the importance of careful newborn examination. ---
28  2012 Advice on the management of ambiguous genitalia to a young endocrinologist from experienced clinicians. ---
29  2012 Environmental pollutants and diseases of sexual development in humans and wildlife in South Africa: harbingers of impact on overall health? ---
30  2012 Guidelines for evaluating and managing children born with disorders of sexual development. GMT, GRADE, TCH
31  2012 The clinical and genetic heterogeneity of mixed gonadal dysgenesis: does "disorders of sexual development (DSD)" classification based on new Chicago consensus cover all sex chromosome DSD? ---
32  2012 The earlier described mutation (c.307c > T [p.R103X]) in the SRD5A2 gene causing a 46,XY female phenotype. ---
33  2011 Prenatal environmental risk factors for genital malformations in a population of 1442 French male newborns: a nested case-control study. EDCs, OR
34  2011 True hermaphrodite: a case report. ---
35  2010 46,XX male - testicular disorder of sexual differentiation (DSD): hormonal, molecular and cytogenetic studies. ---
36  2010 Consensus in Guidelines for Evaluation of DSD by the Texas Children's Hospital Multidisciplinary Gender Medicine Team. GMT, GRADE
37  2010 Long-term psychosocial adjustments, satisfaction related to gender and the family equations in disorders of sexual differentiation with male sex assignment. CAH, MGD, MPH, TH
38  2010 Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration. SF-1
39  2009 Pediatric disorders of sex development. ---
40  2008 Developmental sex disorders: brief review on current ethical aspects. ---
41  2008 Gender assignment and hormonal treatment for disorders of sexual differentiation. AIS, CAH, MGD, MPH, PGD, PMDS, TH
42  2007 Early diagnosis of 5alpha-reductase deficiency in newborns. SRD5A2, T/DHT