The hormone 17-hydroxyprogesterone (17-OH progesterone) is produced by the adrenal glands. These are two small glands. One is located on top of each kidney. Along with special enzymes, or proteins, 17-OH progesterone is converted to a hormone called cortisol. Cortisol is constantly released in varying amounts, but high levels are released during times of physical or emotional stress. Cortisol is also important in regulating metabolism and the immune system.

A cortisol deficiency can occur in people who lack the appropriate enzymes, which can lead to a buildup of 17-OH progesterone in the blood. High levels of 17-OH progesterone can indicate a condition called先天性肾上腺增生(CAH)。CAH是一种腺体疾病,导致肾上腺无法产生足够的皮质醇,并且可能会增加称为雄激素的男性性激素的产生。

男孩和女孩都可以发生CAH。患有CAH的幼儿可能有模棱两可的生殖器,阴毛或痤疮。这种病也可以以较不明显的方式在以后的生活中发展。一些常见的症状包括明确定义的肌肉张力,身体毛增强和更深的声音。

在婴儿中,CAH有时会引起脱水或冲击,这两者都是非常严重的条件。结果,17-OH孕酮测试应成为每位新生儿初次体检的一部分。该测试通常是给美国新生儿以筛选CAH的。

医生通常会为年幼的孩子,少年或成年人订购17-OH孕酮测试,该测试显示CAH的一些经典症状。患有CAH的人越早被诊断出和治疗,经历并发症的可能性就越小。

The 17-OH progesterone test is important for all newborn babies. However, the test should also be considered for anyone who develops symptoms of CAH later in life.

婴儿中CAH的体征和症状包括:

  • genitals that are ambiguous, which means not clearly male or female
  • pubic hair
  • acne
  • 缺乏能量
  • 对进食不感兴趣
  • dehydration
  • low blood pressure
  • vomiting

年轻女孩和成年女性的体征和症状包括:

  • irregular periods
  • a deep voice
  • 具有男性和女性特征的生殖器,但看起来更多的男性
  • 头发生长过多
  • early hair growth in the pubic and armpit area
  • infertility

年轻男孩和成年男性的体征和症状包括:

  • early onset of puberty, beginning as early as age 2 or 3
  • a deep voice
  • 定义明确的肌肉
  • a large penis and small testes
  • infertility

Keep in mind that anyone who has been diagnosed with CAH should be tested periodically so the condition can be monitored. Changes in 17-OH progesterone levels may indicate a need for an adjustment in treatment.

您的医生可能会指示您在测试前至少停止饮食至少八个小时,以确保准确的结果。对于婴儿来说,禁食通常不是必需的。您的医生可能还会要求您暂时停止服用任何可能影响结果的药物。某些药物,包括避孕药和皮质类固醇,可能会干扰测试的准确性。但是,除非您的医生告诉您这样做,否则您不应停止服用任何药物。

如果您的孩子接受了测试,请确保他们穿松散舒适的衣服。这可以使技术人员更容易进行血液检查。

向您的医生或孩子的医生询问更具体的指示。

17-OH的孕酮试验涉及采集一小部分血液样本。血液通常是从手或肘部弯曲的静脉或动脉中抽出的。以下会发生:

  1. A healthcare provider will first clean the area with an antiseptic and then tie an elastic band around your arm. This will make your veins swell with blood.
  2. 一旦找到静脉,他们就会插入针。当针头进入时,您可能会期望感到轻微的刺或刺痛。但是,测试本身并不痛苦。他们只会根据需要收集足够的血液来进行测试,以及您的医生可能已经订购的任何其他血液检查。
  3. After enough blood has been drawn, they’ll remove the needle and place a bandage over the puncture site.
  4. 然后,他们会告诉您用手向该区域施加压力几分钟。
  5. 然后,血液样本将被送到实验室进行分析。
  6. Your doctor will follow up with you to discuss the results.

A simple heel prick is enough to provide an adequate blood sample for infants. A healthcare provider will use a sharp tool called a lancet to prick the skin. They’ll then collect the sample of blood and cover the puncture site with a bandage.

Blood tests carry few risks. Some people have a slight bruise or experience soreness around the area where the needle was inserted. However, this usually goes away within a few days.

血液检查的风险很少,但可能会发生。这样的风险包括:

  • excessive bleeding
  • fainting
  • dizziness
  • blood accumulating under the skin, or a hematoma
  • infection at the puncture site

17-OH孕酮测试的结果取决于许多变量,包括年龄,性别和测试方法。这可能使难以识别正常和异常的测试结果。确保与医生见面,讨论17-OH孕酮测试结果对您或您的孩子意味着什么。

通常,各个年龄组的正常结果包括:

  • newborns: 1,000-3,000 nanograms/deciliter (ng/dL)
  • babies older than 24 hours: less than 100 ng/dL
  • adults: less than 200 ng/dL

High levels of 17-OH progesterone in the blood may indicate CAH. Infants with CAH tend to have 17-OH progesterone levels ranging from 2,000 to 4,000 ng/dL, while adults with CAH usually have 17-OH progesterone levels above 200 ng/dL.

High 17-OH progesterone levels could also indicate the presence of an adrenal tumor, which can also affect hormone levels. Further testing may be required to determine the specific cause of increased CAH levels.