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 [3] and in gallic acid induced testicular toxicity [24].
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 reductase deficiencies.
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.
