Health

Definition: what is congenital adrenal hyperplasia?

Congenital adrenal hyperplasia (CAH) is a rare genetic disease which is characterized by an anomaly of adrenal glandslocated above the kidneys: some hormones are overproduced, while others are underproduced. This abnormal production of hormones affects the growth and development of the sexual organs. “It exists several forms congenital adrenal hyperplasia depending on the severity of the disease. Classic congenital adrenal hyperplasia accounts for more than 90% of cases. She is related to a deficiency of the enzyme 21 hydroxylase which causes cortisol deficiency and excess androgens. It is the most severe form of the disease. Congenital adrenal hyperplasia is said to be non-classic when it is more moderate and detected later in childhood or in adolescence or even in adulthood.“, explains Dr. Isabelle Flechtner.

What causes congenital adrenal hyperplasia?

Congenital adrenal hyperplasia (CAH) is caused by a deficiency of steroidogenesis enzymes, process responsible for ensuring the production of certain hormones and regulating various body functions such as the growth and development of the sexual organs. This disorder leads to the excessive production of certain hormones and the deficit of others. “It’s a hereditary disease : both parents have only one diseased gene but if the child inherits both diseased genes, he will develop the disease. Depending on the mutations, the child will have a classical or non-classical form. In a classic form, two severe mutations are observed: each of the two parents carries a mutation which has no enzymatic activity. But the most frequent are so-called non-severe mutations which are manifested by acne or body hair early on in little girls or boys. The classical form concerns 1 in 10,000 children and affects both sexes equally. With each pregnancy, there is a 1 in 4 chance that children will inherit both mutations.”details the pediatric endocrinologist.

What are the symptoms of congenital adrenal hyperplasia?

In its classic form, congenital adrenal hyperplasia results in an abnormality of the genital organs in the little girl but no signs in the boy, which is why there is systematic screening at birth. After a few days of life, it can manifest as a dehydration very severe and profound hypoglycemia. Non-classic forms can remain asymptomatic for a long time and then manifest later in childhood or adolescence with early hairiness, given the hormones present in the body. “The excess of testosterone also has an impact on growth: children grow faster but stop growing sooner. They therefore tend to be smaller than averagee. These children benefit from very close follow-up in endocrinology. A treatment to block puberty may be administered to them in the event of early puberty“, specifies the specialist.

The classic (severe) form is systematically detected from birth, on the third day of life, by taking a few drops of blood. A virilization of the external genital organs is observed in the little girl, with in particular an enlarged clitoris that is larger than normal. The labia majora can also look like pouches that hide the entrance to the vagina. In the little boy, on the other hand, the genital organs are normal. At the third week of life usually occurs dehydration correlated with a loss of sodium in the blood which leads to a decrease in blood pressure. The non-classical form is detected later in childhood or adolescence, when faced with early hair growth and accelerated growth.

What are the consequences of congenital adrenal hyperplasia?

“Congenital adrenal hyperplasia can cause severe dehydration in infants can lead to death, a hypoglycemia deep et female genital abnormality. During childhood and adolescence, growth disturbances may occur, as well asprecocious puberty“, says Dr. Isabelle Flechtner.

What is the treatment for congenital adrenal hyperplasia?

“There is no cure but hormone replacement therapy which makes it possible to compensate for the missing hormones (cortisol and aldosterone) and to reduce the production of hormones produced in excess (androgens)”, inform the expert. It consists ofhydrocortisone and fludrocortisone and is administered in tablet form. This treatment should be taken for life. In case of precocious puberty, a treatment blocking the production of hormones by the ovaries and testes can be administered.

When to consider an operation?

Surgery may be offered to correct genital abnormalities present in the little girl. It mainly aims to reduce the size of the clitoris and reconstruct a vaginal orifice that would be obstructed. “Previously, little girls whose appearance of the vulva was abnormal were operated on between the ages of 3 and 6 months. Now it’s more complicated because there is a lot of controversy over the fact that we operated on children who are now claiming the right to be different.“, comments the pediatric endocrinologist.

Thanks to Dr Isabelle Flechtner, pediatric endocrinologist in Paris

[Director Ricardo Rodriguez]

“I think we played a good game once more. We had two goals ruled out and it was a struggle to score, but overall I think we played a very good game. Despite the fatigue, I played well in the first half, but in the second half, I tried to find a solution to the opponent’s change in defense. I think it was done.

It’s a good run right now, but as I said last time, we still have one game left and we haven’t achieved anything yet. I want to fight hard, win, and reach the final.”

【Atsushi Ito】

“First of all, I am happy that I was selected (for the Player of the Match). I think it led to the result.It was a good performance, and the result came along with it, so I think we were able to play a really good match.However, it doesn’t mean anything if we don’t win the next match, so we’ll have two days to recover. I want to win the next one and advance to the final.”

[質疑応答]

(You were replaced in the second half, how is it?)
Atsuki Ito
“It’s just a cramp, so I’m fine. I want to recover well and head to the next match.”

(Your opponent, Coach Teguramori Makoto, said, “I was overwhelmed by the Reds’ quicker transitions.”)
Atsuki Ito
“In the last few games, everyone has been conscious of switching between offense and defense, and I feel that we are overwhelming the opponent. I think it’s what’s happening, and I think we’re creating opportunities from that. I feel that everyone’s awareness of that right now is one of the major factors that has led to this result.”

(I think the two goals in the second half came from Ito carrying the ball, but what kind of vision did you carry the ball with?)
Atsuki Ito
“Both of them had the same shape, but recently I’ve been conscious of carrying them when there’s space in front of me. Junker) and others were starting to move, so I tried to get a through pass, but I mightn’t get it out, and (Esaka) was free, so I’m glad that it led to the goal in a good way. I’m conscious of aiming for a goal anyway, and that’s led to results in the last few games, so I’d like to continue.”

(In the past few games, you have been playing in front of the fans and supporters cheering you on. How do you feel the difference in the games, and how do you feel regarding the difference as a player?)
Atsuki Ito
“There are wonderful fans and supporters at Saitama Stadium, and the cheering has really boosted me, and they have created a wonderful atmosphere from the warm-up, and I feel that they are really fighting together. I think that everyone can feel that as they compete.”

(Last year, I think there were some games that didn’t go well because we weren’t able to put in a strong start and let the opponent take over, but in the last two games, it looks like we’ve been able to come in strong and overwhelm the opponent first. What do you think? (Do you feel the change?)
Directed by Ricardo Rodriguez
“I think we are in the best period since I took over as manager of Urawa Red Diamonds. Mentally, we are very well prepared. Considering this schedule, it is not 3 games, but 1 game, 1 game, but I think we are doing it while giving our players a break. increase.

Of course, the league is also important, and within that, we have a very good flow, so I think it is important to continue to grow and compete well in all three tournaments, including this one.”

(In the second half, the opponent changed the system, and there was a dangerous scene where they were pushed a little, but did you ever take any measures as a manager?)
Directed by Ricardo Rodriguez
“As for defense, we continued with the same 4-4-2 structure. In the second half, the left-back changed positions, and No. 22 (Worachit Kanisrivamhun) and Diogo (Luis Santo) played shadow. I don’t want to go into too much detail, but in terms of how to keep the opponent off-balance when you have the ball, we chose a method that we have worked on in the past. I think I was able to push the opponent while holding the ball.

And the players who came in from the middle of the match also played a positive role for the team. Thanks to Esaka, Casper, (Takahiro) Akimoto, and others for their great support to the team, I think we were able to successfully continue the plan we were trying to carry out.”

[Urawa Reds Official Media (URD:OM)]