I intend to go into these conditions in more depth later on, but will start with a brief history of what has happened so far. Max had a normal birth with no complications, and was released from hospital two days later.

The first signs of trouble we noticed where in the first week of Max’s life where he suffered rapid weight loss he lost one pound seven in the first week of his life. We took him round to local doctors and he told us to take him straight over to JAMES PAGET HOSPITAL IN GORLESTON.

At this point Max had detearated a lot the first doctor came in and done a reaction test and max did not react to this at all the doctor explained that he did not have a clue what was wrong with him but said not to worry as there is several doctors on children’s ward and one of them might remember a similar case it was not until the third doctor came in and he said he had a idea what might be wrong with max.

But we did not have time to wait for the test results so he put max on a sodium drip a little bit later Max’s heart stopped in hospital and the doctor restarted it he later explained to us that his gut feeling was correct and if he had not have gone with his gut feeling that max would have been dead within 24 hours at this point he told us that max has got congenital adrenal hypoplasia.

There is a brief description of this below.

Precocious puberty in this case is called adrenogenital syndrome. When it is associated with congenital adrenal hypoplasia, it is caused by genetic disease, inherited as an autosomal recessive characteristic. This means that it can affect either sex, and that both parents must carry the gene for the child to have the disease.

Congenital adrenal hypoplasia is a disorder in which the adrenal glands do not function properly, resulting in the body not producing enough cortisol, a type of steroid which is essential to life.

There are severe and mild forms of the disease, depending on which gene has mutated.

Most patients with congenital adrenal hypoplasia have a defect in a metabolic process called 21-hydroxylation, because of a defective enzyme involved in the process.

There are two forms, salt losing and non-salt losing. Because cortisol is lacking, these children produce excessive amounts of androgen, or sex hormones.

The main clinical characteristic of boys with the non-salt losing form of this disease is precocious puberty. The child is normal at birth, but signs of sexual, and general body maturity may develop within the first six months of life, and are obvious by the age of four to five. The penis, scrotum and prostate are enlarged, and pubic hair is present. The boy may develop acne, and has a deep voice. There is early muscle development. The boy may be tall in early childhood, but because bone growth is advanced, the growing ends of the bones (epiphyses) close early, so stunting growth.

In girls with the non-salt losing form, there is pseudohermaphrodism. This means that the girl has masculine genital features, with an enlarged clitoris, and the labia may be fused. The vagina is abnormal and opens with the urethra (tube from the bladder). This masculinisation progresses after birth, with pubic and axillary hair developing early, along with acne and a deep voice. They generally have the body-build of a boy, and do not develop breasts and menstruate unless the excessive production of androgens is suppressed by adequate treatment.

Treatment is with glucocorticosteroids, such as hydrocortisone, for life. Increased doses are needed during periods of stress, such as infection or surgery. Boys who are not adequately treated with steroids may develop testicular tumors, which may or may not regress with increased steroid dosage.