Re: early onset severe IUGR and ambiguous genitalia without any other anomaly

From: Andrew Folley (agfolley@hotmail.com)
Wed Nov 1 13:41:12 2006

Is it possible to explain this severe IUGR with uteroplacental insufficiency ? The IUGR sounds more "sy6mmetric in natrue with early onset at 18020 weeks. Typically I would think more along the lines of infectious etiiology such as cytomegalovirus, toxoplasmosis, herpes, rubella etc. along with either chromososmal or congenital abnormaliities as the cause of IUGR.

Loss of end dialstolic flowor reversal in the umbilical artery is ominous and usullay death within 1 to 3 days. >
>- Is there any syndrome defined to explain this case ?

The question is wheterh or not the ambiguous genitalia is associated with the IUGR, ologo and placental inicreased resisitance? The latter thre go together. The first not usually seen with it. Ambiguous gentialia with male genotype suggests defect in enymes for pr9oduction of testosterone or lack of tissue sensitization to testosterone effects. I do not know what a common link would be between this and the oligo, IUGR and placenta? Perhaps theere were other GU abnomalities resulting in oligo (posterior ureteral valves or urethral constriction? Increasing placental resistance causing reverse flow in mother who is normotensive makes one think of underlying thrombotic process. Recommend checking MTHFR, ANA, coags, etc >
>- What is to be done for future pregnancies?

Do thorough workup looking for any underlying maternal medical problems (Diabetes thyroid, thrombophilias, autommune) Look for family history of ambiguous genitialia? If all negative reassure mom it is probalby a fluke occurence due to some type of congenital anomly in fetus. Encourage pregnancy. Follow next one closely with US for groth and AFI and dopplers.

>From: jdstewartmfmob@sbcglobal.net (JD Stewart,MD)
>Reply-To: ob-gyn-l@obgyn.net
>To: Multiple recipients of list OB-GYN-L <ob-gyn-l@dns.obgyn.net>
>Subject: Re: early onset severe IUGR and ambiguous genitalia without any
>other anomaly
>Date: Wed, 1 Nov 2006 13:49:42 -0600
>
> Few details you may or may not be able to access-
>2 or 3 cord vessels?
> Any history of losses/ defects in either side of family?
>Coagulopathy/ autoimmune problems? (One would expect preeclampsia with
>this...)
>Was mom's platelet count normal? The timing of the IVH would coincide
>with expected low platelet count in baby (48-72 hrs)
>Anything on the placental pathology of note..clots, infarcts , villous
>dysmorphology?
>Was a more detailed autopsy done of the baby?
>
>Sorry for this loss. Clinically, surprising that baby made it to
>delivery age, given the degree of IUGR...
>
>At Tue, 31 Oct 2006, Lalehan Kutlay wrote:
> >
> > CASE INFORMATION
> >
> >First trimester screening test of a 29 years old woman in her first
> >pregnancy with no health problem revealed high levels of free BHCG.NT
> >was within normal limits and no other abnormal finding was observed in
> >second level ultrasonographic examination. Fetal caryotype was reported
> >as normal (It's forbidden to give information about sex genotype in
> >Turkey ) .Fetal growth restriction was observed after 18 th week and
> >maternal uterine artery doppler was abnormal.Ultrasonography of external
> >genitalia was reported as normal female fetus.
> >
> >At 26th week ,EFBW was 580 gr.In spite of absence of end-diastolic
> >velocity,fetal body movements were normal, NST was reactive and AFI was
> >within normal limits .
> >
> >Up to 32 th week NST's were reactive , AFI measurements were normal but
> >brain spairing effect persisted .Maternal blood pressure was always
> >normal during pregnancy.
> >
> >Ath 32th week EFBW was 680 gr,AFI was lower than %3 . NST was non
> >reactive and CS is performed and a 700 gr baby with severe hypospadias
> >,micropenis and palpable testicles was delivered. There was no other
> >congenital malformation. Fetal caryotype is learned as 46XY.
> >
> >RDS was not severe and nasal CPAP is sufficient after 12 hours of
> >endotracheal entubation. After 36 hours intracranial hemorrhage is
> >observed and neonatal excitus occured in 3rd day.
> >
> > I'd like to hear the comments about;
> >
> >- Is it possible to explain this severe IUGR with uteroplacental
>insufficiency ?
> >
> >- Is there any syndrome defined to explain this case ?
> >
> >- What is to be done for future pregnancies?
>
>--
>JD. Stewart, MD
>MFM up too late all night, every night

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