Table I.

Frequency of institutions classifying discrete diagnoses/phenotypes as DSD.

Diagnoses/Phenotypes	Classified as DSD
	n	%
45,X/46,XY MGD, ovotestes	22	100
46,XX/46,XY chimera, ovotestes	22	100
Ovotestes	22	100
46,XX with male phenotype	22	100
Androgen biosynthesis defect (e.g., 5α reductase deficiency)	22	100
Androgen excess in 46,XX due to fetal (e.g., 21-hydroxylase deficiency), fetoplacental (e.g., aromatase deficiency), or maternal (e.g., luteoma) causes	22	100
Defect in androgen action (e.g., complete androgen insensitivity syndrome (CAIS); partial androgen insensitivity syndrome (PAIS))	22	100
Complete gonadal dysgenesis	22	100
Partial gonadal dysgenesis	22	100
Disorders of AMH and AMH receptor (persistent Müllerian duct syndrome)	20	91
LH receptor defects (e.g., Leydig cell hypoplasia, aplasia)	17	81*
45,X Turner syndrome and variants	16	73
Proximal hypospadias with uni-/bilateral undescended teste(s)	14	70†
47,XXY Klinefelter and variants	15	68
Gonadal regression (anorchia)	15	68
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome/Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia (MURCS)	14	67*
46,XY bladder/cloacal anomalies	13	62*
46,XX bladder/cloacal anomalies	13	62*
Vaginal atresia	13	62
Isolated micropenis	12	57*
Proximal hypospadias with descended testes	10	50†
Distal/mid-shaft hypospadias	6	30†
Undescended teste(s)	6	27
Trauma	0	0

^*one site selected “prefer not to answer” and therefore was not included in calculations

^†two sites selected “prefer not to answer” and therefore were not included in calculations

Note: Diagnoses/Phenotypes are listed identically to how they were displayed on the survey. Abbreviations not included above are as follows: MGD = Mixed Gonadal Dysgenesis; AMH = Anti- Müllerian Hormone; LH = Luteinizing Hormone