The patients enrolled in the study were called on day 2 of their subsequent cycle for the investigations (FSH, LH, AMH, 17-hydroxyprogesterone levels (17 OHP), testosterone, androstenedione
, 75 gm oral glucose tolerance test (OGTT), fasting insulin, fasting triglycerides, HDL (high density lipoprotein), LDL (low density lipoprotein), and cholesterol levels).
The biochemical investigations include the measurement of relevant hormones in serum (e.g., 17-hydroxy progesterone, testosterone, DHT, androstenedione
, luteinizing hormone, and follicle stimulating hormone) and the measurement of various metabolites of the steroid pathway (Fig.
The steroid hormones analyzed included pregnenolone, 17a-hydroxyprogesterone, and corticosterone, which are produced in the zona glomerulosa (ZG) and zona fasciculate (ZF), as well as dehydroepiandrosterone (DHEA), androstenedione
, and free testosterone of the zona reticularis (ZR) of the adrenal cortex.
The study also showed null movement in the hormones DHEA, cortisol, and androstenedione
in saliva samples.
Gonadotrophins, 17-hydroxyprogesterone (17OHP), dehydroepiandrostenedione (DHEA-S), androstenedione
, testosterone and oestradiol were recorded.
Specifically, this test measures and reports the following analytes: Androstenedione
; Total Testosterone; 5[alpha]-Dihydrotestosterone (5[alpha]-DHT); ratio of Total Testosterone/5[alpha]-DHT; 3[beta]-Adiol; 5[alpha]-Androstane-3[alpha],17[beta]-diol (3[alpha]-Adiol); and the ratio 3[beta]-Adiol/(5[alpha]-DHT+3[alpha]-Adiol).
The results--which are summarized in Table 1--showed the following: low-undetectable levels of testosterone, DHEA-S, androstenedione
, 17-OH-progesterone, estradiol and active renin; low-normal 24h urinary cortisol and serum aldosterone; high ACTH, progesterone, LH and FSH concentrations; metabolic alkalosis with severe hypokalemia.
(A4), the steroid precursor of testosterone, has been proposed as a marker of androgen excess in PCOS patients, especially in identifying PCOS patients with a higher metabolic risk .
The 17 hyroxyprogesterone level was 8000 nmol/lit, androstenedione
864 ng/dL, and total testosterone 65 ng/dL.
Estrogens overproduction occurs through an increase in androgen substrates such as androstenedione
. However, it can also result from augmentation in aromatase activity within the tumor leading to an increased synthesis of estrone.
cousin Presentation Adrenal crisis Length/Height, cm (SDS??) 72 (-1.83) Weight, g (SDS??) 8000 (-2.65) External genitalia Labial synechiae Adrenal imaging Normal (MRI) Basal cortisol, [micro]g/dL <1 Stimulated cortisol, [micro]g/dL <1 Adrenocorticotropic hormone, pg/mL 259 Progesterone, (ng/mL, N:<30) 1.4 DHEAS, ([micro]g/dL, N: 50-500) 4.2 17-OHP, ng/mL 0.7 1.4 Androstenedione
, ng/mL 0.18 Testosterone, (ng/mL) 0.3 Aldosterone, (ng/mL, N: 35-410) <1 Renin, pg/mL (N: 5.2-33.4) >500 PRA (N:0.98-4.18) - CYP11A1 mutation p.R451W Case 2 Age at diagnosis, year 0.08 Karyotype XY, t(4;9)(p16.6?;p13.3) Birthweight, g/gestational weeks 1750/33 Parents 1.