A review of the essential concepts in diagnosis, therapy, and gender assignment in disorders of sexual development

Annals of Pediatric Surgery

Table 4 The further characterization of 46 XY DSD, based on endocrine and genetic studies

Type of 46 XY DSD	Subtype	Findings:common, specific
Defects in androgen synthesis		Common finding: low testosterone on hCG stimulation, normal, or increased AMH
a. Leydig cell hypoplasia/LH Receptor defects	–	Normal ACTH, testosterone: androstenedione ratio > 1
b. Testosterone biosynthesis defects	17-beta hydroxy steroid dehydrogenase deficiency	Normal ACTH, testosterone: androstenedione ratio < 1
	3-beta hydroxy steroid dehydrogenase deficiency	Increased ACTH, ACTH test-increased 1-OH pregnenelone, 17-OHP; minimum virilization, salt wasting
	p450 oxidoreductase (POR) deficiency	Increased progesterone and 17-OHP, glucocorticoid deficiency+/−
	17,20 lyase deficiency, +/−17 hydroxylase deficiency	Increased progesterone: 17-OHP ratio, hypertension, hypokalemia
.	StAR deficiency, congenital lipoid adrenal hyperplasia, cholesterol side chain cleavage deficiency	Decreased level of all precursors, salt wasting syndrome
c. Defect in peripheral conversion	5-alpha reductase deficiency	Increased testosterone on hCG stimulation, increased testosterone: DHT ratio
Defects in androgen action	Androgen insensitivity syndrome:complete/partial	Increased testosterone on hCG stimulation, increased LH and AMH, abnormal androgen receptor studies