My Mum rang me very excitedly today :) She's been watching this show on Foxtel, 'Mystery Diagnosis'. She and Dad have a competition to see who can guess the condition first - weird, I know, but it explains me a bit I think :rofl:
Anyway, today had a woman who presented with hirsutism, fertility problems, early onset puberty and menses, etc. Straight away Mum went 'PCOS', as did the woman's doctors. They had done blood tests which showed elevated levels of testosterone and androgens, so they put her on Metformin.
After being on the Metformin for a little while, she had more blood tests done, and they found that her hormone levels hadn't changed - she still had too much testosterone. Her specialist came up with a new diagnosis - Non Classical Congenital Adrenal Hyperplasia.
I'm going to my doctor tomorrow to request blood tests for this, as I know my previous tests have all shown elevated androgens. There are different treatments, depending on the severity and whether or not fertility is a consideration.:
Non-classical Adrenal HyperplasiaNon-classical(NCAH) (also known as Late-Onset CAH) is a variation of CAH that can begin to cause noticeable changes at any time from early childhood through early adulthood but is not immediately life-threatening. NCAH can have a range of symptoms which overlap with other disorders and therefore may not be easily diagnosed, and so is less likely to be diagnosed promptly.
Girls born with NCAH have normal genitals. Boys also appear normal. Because the symptoms begin later in life, NCAH is sometimes called late-onset CAH, adult-onset CAH, or the attenuated form of CAH. Non-classical CAH does not progress to classical CAH in affected individuals.
NCAH may be picked up in infants through newborn screening tests, but they do not necessarily need treatment. Parents can be aware of the symptoms of the disorder and seek treatment if it becomes necessary. Only those children/adults who are symptomatic should be treated. Some with NCAH never experience bothersome symptoms. Those with NCAH who have no symptoms do not need treatment.
What are the symptoms of NCAH?
NCAH symptoms vary from person to person. Also, one person’s symptoms may come and go over time. These symptoms can begin at any time in life and may start in early childhood. These symptoms are often mistaken for premature puberty - girls with signs of puberty before age 8 and boys before age 9. It is progressive, meaning that the untreated symptoms may become worse over time.
Both males and females with NCAH may show the following:
Premature development of body hair (pubic and underarm)
Body odor (young children’s perspiration normally has no odor)
Early, rapid growth spurt, but ultimately short stature as adult
Oily hair and skin
Severe acne
Anxiety
Depression
Mood swings
Infertility
In females, symptoms most frequently become apparent shortly after the onset of menstruation and may include the following (as well as those symptoms mentioned above):
Early age of first menstrual period
Menstrual irregularities
Thinning hair on head, especially at the temples (male pattern baldness)
Excessive hair growth; facial hair on chin and upper lip may be thick, coarse, and dark
Previous diagnosis or symptoms of Polycystic Ovarian Syndrome (PCOS).
In males, NCAH can also produce the following:
Early beard growth
Enlarged penis with comparatively small testes
Low sperm count
Short stature
I find this extremely interesting, as I believe I may have been misdiagnosed with PCOS, and may have this instead. I wanted to post it because I wonder how many others may have been misdiagnosed, and are currently receiving treatment that is going to be unsuccessful. It also hits close to home for me because after my most recent loss, I've been researching everything I can, because I felt there was another reason that I can't carry past 6 weeks. I'm hoping the above study is what I've looking for...:
Objective: In contrast to subfertility often reported in women suffering from the classical form of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, fertility in nonclassical CAH (NC-CAH) has been rarely studied. Our objective was to evaluate fertility in NC-CAH women.
Material and Methods: We studied 190 NC-CAH women (161 probands + 29 first degree relatives). Only 20 probands had consulted for infertility (12%), either alone or associated with hirsutism or menstrual cycle disorders. The diagnosis was established on post-ACTH 17-hydroxyprogesterone 10 ng/ml or greater and further characterized by CYP21A2 gene analysis.
Results: Ninety-five of the 190 women wanted pregnancy (aged 26.7 ± 8.9 yr); 187 pregnancies occurred in 85 women, which resulted in 141 births in 82 of them. Ninety-nine pregnancies (52.9%) occurred before the diagnosis of NC-CAH (96 spontaneously and three with ovulation inducers) whereas 98 occurred after diagnosis (11 spontaneously and 77 with hydrocortisone treatment); 83% of pregnancies were obtained within 1 yr. The rate of miscarriages was 6.5% for pregnancies obtained with glucocorticoid treatment vs. 26.3% without. Two of the 141 infants (1.5%) were born with classical CAH.
Conclusion: Subfertility is mild in NC-CAH. However, the rate of miscarriages is lower in pregnancies occurring with glucocorticoid treatment and argues for treating NC-CAH women wanting pregnancy. In addition, considering the high rate of heterozygotes for CYP21A2 mutations in the general population, it is essential to genotype the partner of patients with a severe mutation to predict the risk of classical CAH and offer genetic counseling.
MODS - Even though this isn't PCOS or Endometriosis, I thought this would be the best section for it given the often misdiagnosis, but if you feel it would be better somewhere else, feel free to move :)
