Not even specialist doctor understand CAH. So you have to tell them what to do. Get these blood tests done immediately at the local doctor or the children's hospital. The symptoms you described are CAH symptoms. Untreated can be fatal (death). Symptom include: fatique, weight loss, anorexia, weakness, increased pigmentation, excessive lethargy. Usually the older child is not as severe as an infant (an infant salt wasting CAH child will die within weeks without meds). But the fertility issues are the same. And also height. Without treatment - the child can have fertility and growth issues. They are tall as a child 7 - 10 years old but then are very short adults because the bones are fused. Also the teenager with CAH (untreated) has early development of pubic hair, severe acne, excessive facial or body hair, receding scalp hairline, etc. Again infertility in both boy and girls if not treated. So this is important to find out now. Every day they wait is putting the child's future in crisis because it may be able to reverse if not treated right away. Infertility will result in not treated properly. Tell them initial screening test: 1. 8 am serum cortisol and ACTH levels 2. Serum 17-hydroxyprogesterone 3. Serum 11-dexoxycortisol 4. Serum plasma renin 5. Serum adrenocorticotrophic hormone 6. Bone growth x-ray of the wrist 7. Chem 8 serum (blood) test (some doctors do urine test also to check sodium but the blood test is better). Some test urine for 1-oxosteriods; pregnnetriol and 17-ketosteroid And then do a more definitive metyrapone test and ACTH (cortisol) stimulation test (or if I were you with so much symptoms I would skip the initial screening and to for the more definitive testing). Metyrapone (Metapirone) tests the entire hypothalamic/pituitary/adrenal axis. Metyrapone blocks the cortisol pathway between 11-desoxycortisol and cortisol. Metyrapone is given orally in a dose of 30mg/kg (maximum 3mg) at midnight with food; at 8 am the next morning blood specimens for 11-desoxycortisol, cortisol and ACTH levels are drawn. The ACTH or cortisol 60 minute challenge or simulation test. Is also done at 8 am. It assesses the ability adrenal cortex to respond to ACTH. They drawn blood without any medication. Then they inject cosyntropin by IV for 60 minutes, and then after draw the blood again.