The patient was diagnosed with 17[beta]HSD-3 deficiency (termed 17-ketosteroid
reductase deficiency at the time) and, later, he was identified to be a homozygote for the 655-1;G[right arrow]A mutation (22).
Also, curcumin increased the level of 17-ketosteroid
reductase enzyme and subsequently increased the testosterone level in cadmium induced testicular damage  and in gallic acid induced testicular toxicity .
A 24-hour urinary 17-ketosteroid
excretion was also measured.
NR5A1 gene defects should also be considered in 46,XY DSD cases with normal testosterone concentrations, similar to androgen receptor (AR) mutations or mild 5-[alpha] reductase, or mild 17-ketosteroid
The quantitation of major 17-ketosteroid
fraction by gas-liquid chromatography.
The inactivation pathway occurs mainly in the liver via conjugation into testosterone conjugates (glucuronides and to a lesser extent sulfates) and in equal proportions into the 17-ketosteroids
(androsterone and etiocholanolone).
In addition, serum DHEA and 24-hour urine 17-ketosteroids
levels were done in virilising adrenal lesions.
The standard metabolic examination includes serum electrolytes, cortisol, aldosterone, ACTH, 17-ketosteroids
and 17-hydroxycorticoids, renin, urinary catecholamines, metanephrine, and VMA.
Decreased level of serum cortisol, raised 17-hydroxy progesterone, raised ACTH and raised urinary 17-ketosteroids
levels confirmed the diagnosis.
The laboratory diagnosis of 17-[beta]-HSD3 deficiency is usually made based on finding a characteristic biochemical pattern with predominance in 17-ketosteroids
(namely androstenedione, DHEA, and estrone) compared with 17-hydroxylsteroids (namely testosterone, androstendiol, and estradiol) with consequent increase in androstenedione: testosterone and estrone: estradiol ratios in basal state or post-HCG stimulation.
Used as an indicator in the detection of 17-ketosteroids
. Used as an electrolytic reducer in the preparation of aminocresols.
A metabolic workup typically includes serum electrolytes, cortisol, adrenocorticotropic hormone, aldosterone, renin, urinary catecholamines, metanephrines, vanillylmandelic acid, 17-ketosteroids
, and 17-hydroxycorticoids.