Editorial Comment.

12. Nixon R, Cerqueira V, Kyriakou A et al: Prevalence of endocrine/genetic abnormalities in boys evaluated systematically for a disorder of sex development. Hum Reprod 2017; 32: 2130. 13. Rocca MS, Ortolano R, Menab o S et al: Mutational and functional studies on NR5A1 gene in 46,XY disorders of sex development: identification of six novel loss of function mutations. Fertil Steril 2018; 109: 1105.

[1]  P. Merguerian,et al.  Yield of modern genetic evaluation for patients with proximal hypospadias and descended gonads. , 2019, Journal of pediatric urology.

[2]  Y. Tam,et al.  Incidence and diagnoses of disorders of sex development in proximal hypospadias. , 2018, Journal of pediatric surgery.

[3]  A. Ferlin,et al.  Mutational and functional studies on NR5A1 gene in 46,XY disorders of sex development: identification of six novel loss of function mutations. , 2018, Fertility and sterility.

[4]  Emilie K. Johnson,et al.  Proximal Hypospadias and a Novel WT1 Variant: When Should Genetic Testing Be Considered? , 2018, Pediatrics.

[5]  H. Yoo,et al.  Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development , 2017, Molecular and Cellular Endocrinology.

[6]  Huirong Shi,et al.  The Clinical Manifestation and Genetic Evaluation in Patients with 45,X/46,XY Mosaicism , 2017, Sexual Development.

[7]  L. de Wall,et al.  Hypospadias, all there is to know , 2017, European Journal of Pediatrics.

[8]  John Hutson,et al.  Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort , 2016, Genome Biology.

[9]  Eric Vilain,et al.  Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care , 2016, Hormone Research in Paediatrics.

[10]  S. Nelson,et al.  Exome sequencing for the diagnosis of 46,XY disorders of sex development. , 2015, The Journal of clinical endocrinology and metabolism.

[11]  B. Menten,et al.  Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development , 2014, Orphanet Journal of Rare Diseases.

[12]  M. Ibrahim,et al.  Etiological diagnosis of undervirilized male/XY disorder of sex development. , 2014, Journal of the College of Physicians and Surgeons--Pakistan : JCPSP.

[13]  S. Cascio,et al.  Increased occurrence of disorders of sex development, prematurity and intrauterine growth restriction in children with proximal hypospadias associated with undescended testes. , 2013, The Journal of urology.

[14]  W. Snodgrass,et al.  Hypospadias dilemmas: a round table. , 2011, Journal of pediatric urology.

[15]  D. Coplen,et al.  The incidence of disorders of sexual differentiation and chromosomal abnormalities of cryptorchidism and hypospadias stratified by meatal location. , 2008, The Journal of urology.

[16]  S. Ahmed,et al.  Consensus Statement on Management of Intersex Disorders , 2006, Pediatrics.

[17]  S Faisal Ahmed,et al.  CONSENSUS STATEMENT ON MANAGEMENT OF INTERSEX DISORDERS. INTERNATIONAL CONSENSUS CONFERENCE ON INTERSEX ORGANIZED BY THE LAWSON WILKINS PEDIATRIC ENDOCRINE SOCIETY AND THE EUROPEAN SOCIETY FOR PAEDIATRIC ENDOCRINOLOGY , 2006 .

[18]  A. Atala,et al.  The incidence of intersexuality in children with cryptorchidism and hypospadias: stratification based on gonadal palpability and meatal position. , 1999, The Journal of urology.