TEALE FENNING

EMAK · Century Club Joined: 26 Nov 2006 Posts: 570

26 years old lady delivered her first baby 1/2 hour ago, examination reveal that the baby has Ambiguous GenitaliaA ]How will you assess risk factors predisposis to this condition? [2 Marks]
B ] What features you will look for during baby examination?[4 marks]
C ] What investigations suggested ?[ 8 Marks]
D ] What is your plan of management ? [ 6 Marks ]

Xerxes I · Posted: Mon Jan 14, 2008 10:59 am Post subject:

this is a tough one. Is this sort of question typical for what we can get? is it not more paediatrics? it's scary!!

Nick Raine-Fenning · Posted: Mon Jan 14, 2008 11:52 am Post subject:

It's not typical at all and I have only seen it once on a non-RCOG related course. I think it is worth considering however as this topic does come up in the MCQ and would make a nice EMQ. If you can answer a short answer essay on ambiguous genitalia then you should sail through the EMQ / MCQ Wink

Xerxes I · Posted: Sun Jun 08, 2008 2:18 pm Post subject:

26 years old lady delivered her first baby 1/2 hour ago, examination reveal that the baby has Ambiguous GenitaliaA ]How will you assess risk factors predisposis to this condition? [2 Marks]

It's important that any questions asked at this stage from the mother should be very calculated
Explain we don't know the reason
Most cases we will not be able to be why it happenned, it just does.

I guess family history is the most important one as CAH is autosomal dominant. Followed by asking about any medication taken during pregnancy, mothers medical history etc.

don't have anything else to say as we actuallyd on't know what the condition is. (I wouldn't have anything to say even if we knew!)

Xerxes I · Posted: Sun Jun 08, 2008 2:21 pm Post subject:

B ] What features you will look for during baby examination?[4 marks]

don't know,
how does the genitalia look like, any syndromal features? look at the face, clitoromegaly, urethral opening. Other anomalies, anul in particular.

I have no clue
I give up

shachi · Joined: 10 Jun 2008 Posts: 16

Hope this will do......

A ]How will you assess risk factors predisposing to this condition? [2 Marks]

Family history is important as androgen insensitivity syndrome is an X linked recessive disorder and congenital adrenal hyperplasia which is the most common cause of indeterminate geintalia is autosomal recessive.
Potentially masculising drugs used in first 12 weeks of pregnancy, like danazol or norethisterone can lead to masculinisation of female fetus.
Virilising tumors of maternal ovary or adrenal gland can lead to masculinisation of female fetus.

B ] What features you will look for during baby examination?[4 marks]

On genital examination the child has a phallus that is longer and wider than the normal clitoris but not as large as penis. The labia are fused to a varying degree, with a rugose appearance. The urethral opening is usually on the perineum, at the base of phallus, although it can be placed anywhere on the ventral surface of phallus or on the perineum anywhere on a line from the base of phallus to the normal position of urethra.
Presence or absence of gonads.
The pesence of a web neck, lymphoedema of hands or feet is seen in Turner’s syndrome.

C ] What investigations suggested ?[ 8 Marks]

Careful examination by paediatrician.
If both gonads are palpable, one of the forms of undermasculinised male is the likely diagnosis; hCG studies will help to differentiate between the various forms.
Karyotyping: XO/ mosaic, XY in CAIS
17 hydroxyprogesterone levels are elevated in CAH.
USS lower abdomen and tesis.

D ] What is your plan of management ? [ 6 Marks ]
Explain the situation to the parents in a sensitive manner.
Psychological support to parents.
Encourage not to register the birth of child or decide a name until sex of rearing has been determined.
MDT: Paediatric gynaecologist, neonatologist, gynaecologist, psychologist and in some cases paediatric surgeons.
Decision regarding sex of rearing is made in consultation with the parents and depend on the appearance of external genitalia and the likely functional outcome for fertility and sexual relationship.
Masculinised females have potentially functional ovaries, reconstructive surgery is required to correct the appearance of perineum and to open up the vagina from the urogenital sinus.
Undermasculinised males require investigations to assess the potential for penile growth and to maintain erection. Testis are frequently abdominal and may have to be removed due to the risk of malignancy. It is wise to consider rearing such babies as girls.
Timing of surgery should be discussed. Early reconstruction to achieve a normal appearance is important but some surgeons prefer to wat till child is older when ther is more tissue to work with and the effect of estrogen make the tissue less friable.
Children with CAH and enzyme deficiencies should be managed jointly with the endocrinologists.