EP234: Sexual ambiguity a hereditary condition | PUTTING DR G ON THE SPOT

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Consultant urologist Dr George Lee Eng Geap, or a.k.a Dr G, answers queries from a reader who suspects her baby was born with secondary sexual characteristics including ambiguous genitalia.

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Transcript
00:00For the month of August, we're going to do something very interesting and quite different.
00:05We're going to talk about a condition called intersex.
00:15When it comes to intersex, there is a difficulty of differentiating between male and female.
00:21And the most common condition that contributes to intersex is a condition called congenital
00:28adrenal hyperplasia.
00:30By definition, sex is defined as a male or a female, and that is genetically defined
00:37by XX and XY.
00:39However, when a child is born with an external genitalia that doesn't look like the typical
00:47male or female, and that causes an ambiguous genitalia.
00:52In our body, we have an adrenal gland that helps to produce different sort of hormones.
00:58And there are cortisol hormones, which for stress, and also mineral cortisol, which is
01:04actually for the retention of salts, and lastly, sex hormone.
01:09When there's enzyme deficiency, and that can actually causes extra amount of certain hormone.
01:16For example, when somebody suffers from congenital adrenal hyperplasia, then they get less of
01:22cortisol hormones and mineral corticoids, and a lot of that is channeled to sex hormone.
01:27And that happens in a child.
01:30When a child who is a female child is born, if there's too much of androgen that is in
01:36the body, then the child will develop with ambiguous genitalia.
01:41So the child's clitoris, as a female, will actually enlarge and causes what looks like
01:46a tiny penis, and on the other hand, the actual labia might look like scrotum.
01:52So when the child is born, it's difficult to differentiate between a boy and a girl,
01:57and this is a rare condition, which is autosomal recessive condition that is described as congenital
02:04adrenal hyperplasia.
02:07Under this circumstance, a urologist will take charge in order to solve the problem
02:13of something called salt losing phenomenon.
02:17Basically, we replace the salt with additional steroid in order to save the child.
02:23However, later on, there will be tests that is done to differentiate whether this is a
02:29boy or a girl or true hermaphrodites, and that is done by a genetic testing.
02:36The chromosomal analysis of XX or XY will determine whether this is a child who is a
02:42female and developed with male secondary sexual characteristics.
02:48Once that is established, usually the actual hormonal replacement plus a minor surgery
02:54to reassign the child to its original gender, then the problem is solved.
03:00But next week, we're going to talk about a true hermaphrodite when there is a deficiency
03:05in the genes, so instead of getting XX and XY, somebody might get XO or XXY, and so you're
03:14confused, then you need to stay tuned for next week's Putting Dr. G on the Spot.

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