This test serves as a valuable ancillary tool in diagnosing congenital adrenal hyperplasia (CAH), especially in cases where 21-hydroxylase and 11-hydroxylase deficiencies have already been ruled out. It is particularly instrumental in confirming a diagnosis of 3-beta-hydroxydehydrogenase (3-b-HSD) deficiency and 17-alphahydroxylase deficiency. Additionally, it is an essential component of a comprehensive battery of tests used to assess females experiencing hirsutism or infertility, both of which can be potential outcomes of adult-onset CAH.
17-Hydroxypregnenolone is a steroid hormone produced within the body. The measurement of its levels in the blood serum provides valuable insights into hormonal balance and endocrine function.
Deviations from the normal range of 17-Hydroxypregnenolone levels can indicate various medical conditions, including congenital adrenal hyperplasia and other hormonal disorders.
What is Congenital Adrenal Hyperplasia?
Congenital adrenal hyperplasia (CAH) is a term used to describe a group of genetic disorders that impact the adrenal glands, which are small, walnut-sized organs located above the kidneys. These adrenal glands play a crucial role in producing several important hormones, including:
Cortisol: This hormone regulates the body's response to illness or stress.
Mineralocorticoids, such as aldosterone: These hormones are responsible for regulating sodium and potassium levels in the body.
Androgens, including testosterone: These are male sex hormones that are essential for growth and development in both males and females.
Individuals with CAH have a genetic mutation that leads to a deficiency in one of the enzymes necessary for the production of these hormones. There are two primary types of congenital adrenal hyperplasia:
While there is no cure for CAH, proper treatment can effectively manage the condition. With appropriate medical care and hormone replacement therapy, most individuals with CAH can lead full and healthy lives.
Reference Ranges:
Premature (26 to 28 weeks): day 4: 375−3559 ng/dL
Premature (31 to 35 weeks): day 4: 64−2380 ng/dL
3 days: 10−829 ng/dL
1 to 5 months: 36−763 ng/dL
6 to 11 months: 42−540 ng/dL
12 to 23 months: 14−207 ng/dL
24 months to 5 years: 10−103 ng/dL
6 to 9 years: 10−186 ng/dL
Pubertal: 44−235 ng/dL
Adults: 53−357 ng/dL
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High levels of 17-Hydroxypregnenolone can indicate several medical conditions and are often associated with hormonal imbalances. This hormone is produced by the adrenal glands and sex glands, and elevated levels may suggest the following:
Congenital Adrenal Hyperplasia (CAH): One common cause of elevated 17-Hydroxypregnenolone levels is CAH, a group of inherited disorders affecting the adrenal glands' hormone production.
3-beta-Hydroxysteroid Dehydrogenase (3-beta-HSD) Deficiency: High levels of 17-Hydroxypregnenolone can be seen when there is a deficiency in the 3-beta-HSD enzyme, which plays a role in hormone synthesis.
Hyperandrogenism: In certain cases, especially in adolescent females with signs of hyperandrogenism, increased 17-Hydroxypregnenolone levels may be observed. This can be associated with conditions such as premature pubarche.
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Low levels of 17-Hydroxypregnenolone can have several implications and may suggest underlying medical conditions. Here are some possible interpretations:
Congenital Adrenal Hyperplasia (CAH): A common reason for low 17-Hydroxypregnenolone levels is CAH, specifically 17-hydroxylase deficiency. This is a rare genetic disorder affecting steroid biosynthesis, resulting in decreased hormone production.
Hormonal Imbalance: Low levels of 17-Hydroxypregnenolone can indicate a hormonal imbalance in the body. This may affect various hormonal pathways and lead to symptoms such as fatigue, low blood pressure, and mineral imbalances.
Adrenal Dysfunction: Low 17-Hydroxypregnenolone levels may be associated with adrenal gland dysfunction, which can affect the production of cortisol and other important hormones. This can result in various health issues.
Further Evaluation Needed: It's essential to consult a healthcare professional if low 17-Hydroxypregnenolone levels are detected. Additional tests and evaluations may be necessary to determine the exact cause and develop an appropriate treatment plan.
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17-Hydroxypregnenolone, MS (female), 17-OH Progesterone, ACTH, Plasma, ADH, Aldos/Renin Ratio, Aldosterone, Aldosterone/Plasma Renin Activity Ratio, Anti-Mullerian Hormone (AMH), Calcitonin, Serum, Cortisol - ACTH (Cortrosyn) Stimulation Test, Cortisol - AM (Serum), Cortisol, Serum, Cortisol-Binding Globulin (CBG), DHEA, Unconjugated, DHEA-S : Cortisol Ratio, DHEAS (Serum), Estradiol, Estradiol (male), Estradiol, Ultrasensitive, LC/MS, Estriol, Serum, Estrogens, Total (female), Estrogens, Total (male), Estrone, Serum (Female), Estrone, Serum (Male), Free Cortisol, Serum, Free Estradiol, Percent, Free Estradiol, Serum, Glucagon, Growth Hormone, Human Chorionic Gonadotropin (hCG), Total, IA-2 Autoantibodies, IGF Binding Protein 1 (IGFBP 1), IGF Binding Protein 3 (IGFBP 3), Leptin, Luteinizing Hormone, Human (hLH), Pregnenolone (male), Progesterone (male), Progesterone (Serum), Prolactin, Renin Activity, Plasma, Total Testosterone (Female/ng/mL)
