RESUMEN
We are reporting a child with congenital panhypopituitarism, in whom deficient fetal steroidogenesis was suspected prenatally because of undetectable estriol levels measured in the maternal triple-marker screen. No fetal abnormalities were detected by ultrasonography. Amniocentesis demonstrated a normal 46,XX karyotype. Measurement of maternal urinary steroids failed to show elevation in the excretion of the major precursor for estriol, 16 alpha-hydroxydehydroepiandrosterone, indicating that the fetus did not have steroid sulfatase deficiency (placental sulfatase deficiency), the most common genetic cause of extremely low estriol. The steroid analysis excluded other rare single gene defects, including aromatase deficiency and 17 alpha-hydroxylase deficiency. We therefore suspected that the cause of low estriol in this fetus was adrenal insufficiency. Postnatal evaluation was consistent with panhypopituitarism, characterized by deficiency of all anterior pituitary hormones. Because this screen is now offered to more than half the pregnant women in the United States, reports of low estriol levels have become increasingly common. Therefore, it is essential that physicians be familiar with the various etiologies, perform the appropriate antenatal evaluation to determine the specific cause, and closely monitor both mother and child ante- and postnatally.
Asunto(s)
Estriol/sangre , Hipopituitarismo/congénito , Hipopituitarismo/complicaciones , Enfermedades de las Glándulas Suprarrenales/sangre , Enfermedades de las Glándulas Suprarrenales/diagnóstico , Hormona Adrenocorticotrópica/uso terapéutico , Adulto , Biomarcadores , Diagnóstico Diferencial , Estriol/deficiencia , Estriol/orina , Femenino , Feto/metabolismo , Humanos , Hipopituitarismo/tratamiento farmacológico , Recién Nacido , Tamizaje Neonatal , Fosfoproteínas/deficiencia , Embarazo , Esteroide 17-alfa-Hidroxilasa/metabolismo , Esteroides/sangre , Esteroides/orinaRESUMEN
Increased levels of second trimester maternal serum alpha-fetoprotein (MSAFP) have long been established as a marker for neural tube defects (NTDs). In addition, decreased levels of maternal estriol in the third trimester have been reported in pregnancies with anencephalic fetuses. The purpose of this study was to evaluate whether early second trimester unconjugated serum estriol (uE3) is an independent predictor of NTDs. The study included 57,031 patients who underwent maternal serum screening with MSAFP at 14-22 weeks gestation. Of these, 23,415 also had uE3 measurements. There were 63 cases of NTD, an overall incidence of 1.1 per 1,000. Elevated MSAFP (> or =2.5 MOM) was detected in 1,346 patients, 48 of which had NTDs. Decreased uE3 (< or =0.5) was detected in 1,437 patients, 17 of which had NTDs. The incidence of NTDs was significantly higher in patients with low uE3, compared to patients with normal/high uE3 (1.15% vs. 0.09%, P < 001). Finally, 51 patients had both increased MSAFP and decreased uE3; 16 of these had NTDs, 14 of which were anencephalics. In conclusion, both elevated MSAFP and low maternal serum estriol are predictive of NTD but have a low sensitivity. The combination of abnormally elevated MSAFP and low estriol is highly predictive of NTD in particular anencephaly.
Asunto(s)
Anencefalia/diagnóstico , Estriol/sangre , Estriol/deficiencia , Diagnóstico Prenatal , alfa-Fetoproteínas/metabolismo , Anencefalia/sangre , Anencefalia/genética , Estriol/genética , Femenino , Marcadores Genéticos , Pruebas Genéticas , Humanos , Defectos del Tubo Neural/genética , Valor Predictivo de las Pruebas , Estudios Retrospectivos , alfa-Fetoproteínas/genéticaRESUMEN
The value of a single serum free estriol (E3) measurement in the detection of intrauterine growth retardation (IUGR) was investigated. Among the group of 40 mothers later giving birth to a growth retarded baby, E3 was low, i.g. below the level of two lower standard deviations of the mean values, in 9 cases. In the control group of 50 mothers with appropriately grown newborns, none of the E3 values was low. In a group of 42 mothers with a low E3 level, only 10 gave birth to a growth retarded baby. Hence, the sensitivity of a single E3 measurement to detect IUGR is 38%, the specificity 61% and the predictive value 37%. E3 measurement is neither efficient nor accurate in the detection of IUGR.
Asunto(s)
Estriol/deficiencia , Retardo del Crecimiento Fetal/diagnóstico , Estriol/sangre , Femenino , Humanos , Recién Nacido , Recién Nacido Pequeño para la Edad Gestacional , Embarazo , Estudios Prospectivos , Estudios RetrospectivosAsunto(s)
Neoplasias de la Mama/etiología , Estrógenos/fisiología , Prolactina/fisiología , Androstenodiona/sangre , Androstenodiona/fisiología , Animales , Neoplasias de la Mama/metabolismo , Estradiol/sangre , Estradiol/fisiología , Estriol/deficiencia , Estrógenos/sangre , Estrona/sangre , Estrona/fisiología , Femenino , Humanos , Prolactina/sangre , Ratas , Receptores de Superficie Celular/fisiología , Receptores de Estrógenos/metabolismo , Receptores de Progesterona/metabolismo , Globulina de Unión a Hormona Sexual/sangre , Testosterona/sangre , Testosterona/fisiologíaRESUMEN
In a pregnancy with placental sulfatase deficiency very low serum concentrations of estrone and estradiol-1 7 beta are found. Estriol is not detectable. In spite of this serum concentrations of prolactin were in the normal pregnancy range. There was no premature lactation in pregnancy. Lactation in puerperium was unsatisfactory.