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).
It increases dehydroepiandrosterone sulfate (DHEAS), decreases testosterone and 17-hydroxyprogesterone
(17OHP), and has no particular effects on cortisol levels.
The results from this ongoing Phase II open-label study demonstrated a reduction of at least 50% from baseline in 17-hydroxyprogesterone
, or 17-OHP, and adrenocorticotropic hormone, or ACTH, levels in more than 50% of CAH patients treated with NBI-74788 for 14 days.
Improved precision of newborn screening for congenital adrenal hyperplasia using weight-adjusted criteria for 17-hydroxyprogesterone
** If elevated, but <150 ng/dL (5.2 nmol/L), most likely PCOS, however, may consider testing 17-hydroxyprogesterone
to rule-out nonclassic congenital adrenal hyperplasia (NCCAH) due to 21-hydroxylase deficiency (see below).
Late-onset congenital adrenal hyperplasia was excluded by measuring a normal 17-hydroxyprogesterone
level (<1.2 ng/mL during the early follicular phase) in a baseline morning blood sample.
46XX karyotype, hypoplastic uterus on CT scan and elevated ACTH and 17-hydroxyprogesterone
levels lead to the diagnosis of female pseudohermaphroditism due to congenital adrenal hyperplasia and patient was started on glucocorticoids and fludrocortisone by endocrinologist and was also referred to plastic surgeon.
Blood biochemistry tests, urinalysis, audiometry, thyroid function tests, the hormones (such as dehydroepiandrosterone sulfate, 17-hydroxyprogesterone
, free testosterone, estradiol, dehydroepiandrosterone, sex hormone-binding globulin, and androstenedione levels), brain magnetic resonance imagery, electroencephalography, and abdominal ultrasound were all normal.
All of the patients and healthy controls underwent a diagnostic protocol that included basal serum 17-hydroxyprogesterone
(17-OH-P), cortisol, dehydroepiandrosterone sulfate (DHEA-S), total testosterone and sex hormone binding globulin (SHBG) levels and an ACTH-stimulation test.
The 15-adrenal steroid panel included cortisol, 11-deoxycortisol, 21-deoxycortisol, corticosterone, 11-deoxycorticosterone, aldosterone, 18-oxocortisol, 18-hydroxycortisol, cortisone, progesterone, 17-hydroxyprogesterone
, pregnenolone, androstenedione, dehydroepiandrosterone (DHEA), and DHEA-sulfate (DHEA-S[O.sub.4]).
Biochemical profiles include 17-hydroxyprogesterone
, serum electrolytes, androgen, anti-Mullerian hormone (AMH), gonadotropin levels, hCG and ACTH stimulation tests.