1/42. Normal female infants born of mothers with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.Women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, especially those patients with the salt-losing form, have decreased fertility rates. pregnancy experience in this population is limited. We report the pregnancy outcomes and serial measurements of maternal serum steroid levels in four women with classic 21-hydroxylase deficiency, three of whom were female pseudohermaphrodites with the salt-losing form. These glucocorticoid-treated women gave birth to four healthy female newborns with normal female external genitalia, none of whom were affected with 21-hydroxylase deficiency. In three women, circulating androgen levels increased during gestation, but remained within the normal range for pregnancy during glucocorticoid therapy. In the fourth patient, androgen levels were strikingly elevated during gestation despite increasing the dose of oral prednisone from 5 to 15 mg/day (two divided doses). Notwithstanding the high maternal serum concentration of androgens, however, placental aromatase activity was sufficient to prevent masculinization of the external genitalia of the female fetus and quite likely the fetal brain, consistent with the idea that placental aromatization of androgens to estrogens is the principal mechanism that protects the female fetus from the masculinizing effects of maternal hyperandrogenism. These four patients highlight key issues in the management of pregnancy in women with 21-hydroxylase deficiency, particularly the use of endocrine monitoring to assess adrenal androgen suppression in the mother, especially when the fetus is female. Recommendations for the management of pregnancy and delivery in these patients are discussed.- - - - - - - - - - ranking = 1keywords = gestation, pregnancy (Clic here for more details about this article) |
2/42. Fluorescent PCR and automated fragment analysis in preimplantation genetic diagnosis for 21-hydroxylase deficiency in congenital adrenal hyperplasia.Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease which is most often caused by a deficiency in steroid 21-hydroxylase. The disease is characterized by a range of impaired adrenal cortisol and aldosterone synthesis combined with an increased androgen synthesis. These metabolic abnormalities lead to an inability to conserve sodium and virilization of females. The most common mutation causing the severe form of CAH is a conversion of an A or C at nucleotide (nt) 656 to a G in the second intron of the steroid 21-hydroxylase gene (CYP21) causing aberrant splicing of mRNA. A couple was referred to our centre for preimplantation genetic diagnosis (PGD) for 21-hydroxylase deficiency in CAH. A PGD was set up to detect the nt656 A/C-->G mutation using fluorescent polymerase chain reaction (PCR) and subsequent restriction enzyme digestion and fragment analysis on an automated sequencer. Using dna or single cells from the father, the normal allele could not be amplified. Non-amplification of the normal allele has been previously described in asymptomatic carriers, therefore the PCR was further developed using heterozygous lymphoblasts from the mother. The PCR was shown to be highly efficient (96% amplification), accurate (0% contamination) and reliable (0% allelic drop-out). The couple started PGD treatment and the second PGD cycle resulted in a twin pregnancy. The genotype of the fetuses was determined in our laboratory using chorionic villus sampling material using the method described here. Both fetuses were shown to be heterozygous carriers of the mutation, and two healthy girls were born.- - - - - - - - - - ranking = 0.088151436049894keywords = pregnancy (Clic here for more details about this article) |
3/42. Fertility and its complications in a patient with salt losing congenital adrenal hyperplasia.A report is made concerning fertility and its complications in a patient with salt losing congenital adrenal hyperplasia. Fertility with a successful outcome of pregnancy has rarely been reported in women with salt losing congenital adrenal hyperplasia. Problems which have been identified in the past include non-compliance, poor endocrine follow up, secondary polycystic ovarian disease with menstrual irregularity, anovulation and problems related to sexual function. There has been only one report in the literature of a woman with salt losing congenital adrenal hyperplasia who has had two pregnancies with live births. There has been no previous report of subsequent problems with neonatal management of these children. This case highlights some of the long term hazards of management of salt losing congenital adrenal hyperplasia and reports for the first time neonatal complications possibly consequent upon prenatal maternal therapy.- - - - - - - - - - ranking = 0.088151436049894keywords = pregnancy (Clic here for more details about this article) |
4/42. prenatal diagnosis and treatment of 11beta-hydroxylase deficiency congenital adrenal hyperplasia resulting in normal female genitalia.Congenital adrenal hyperplasia (CAH) consists of autosomal recessive disorders of cortisol biosynthesis, which in the majority of cases result from 21-hydroxylase deficiency. Another enzymatic defect causing CAH is 11beta-hydroxylase deficiency. In both forms, the resulting excessive androgen secretion causes genital virilization of the female fetus. For over 10 yr female fetuses affected with 21-hydroxylase deficiency have been safely and successfully prenatally treated with dexamethasone. We report here the first successful prenatal treatment with dexamethasone of an affected female with 11beta-hydroxylase deficiency CAH. The family had two girls affected with 1beta-hydroxylase deficiency born with severe ambiguous genitalia who were both homozygous for the T318M mutation in the CYP11B1 gene, which codes for the 11beta-hydroxylase enzyme. In the third pregnancy in this family, the female fetus was treated in utero by administering dexamethasone to the mother, starting at 5 weeks gestation. The treatment was successful, as the newborn was not virilized and had normal female external genitalia. A second family with two affected sons was also studied in preparation for a future pregnancy. We report a novel 1-bp deletion in codon 394 (R394delta1) in the CYP11B1 gene in this family.- - - - - - - - - - ranking = 0.5keywords = gestation, pregnancy (Clic here for more details about this article) |
5/42. Congenital adrenal hyperplasia associated with maternal pregnancy luteoma and the Antley-Bixler syndrome.The authors report on a child with indifferent external genitalia consisting of severe micropenis with penile urethra leading to the tip of the glans and bilateral cryptorchidism. Diagnostic workup findings showed a female karyotype, homozygous 21-hydroxylase deficiency, and excessive testosterone exposure prenatally as a consequence of maternal pregnancy luteoma, altogether causing this unusual phenotype. In addition, the girl suffered from skeletal anomalies consistent with the diagnosis of Antley-Bixler syndrome. Our case shows that, although the association of congenital adrenal hyperplasia with other syndromes is rare, and even if other possible reasons for in utero virilization are present, complete diagnostic workup including karyotyping and hormonal status should be done in all patients with ambiguous genitalia, especially in cases of an unusual phenotype. The authors report on the diagnostic procedures and discuss the surgical approach in this particular case, never described before in the literature.- - - - - - - - - - ranking = 0.44075718024947keywords = pregnancy (Clic here for more details about this article) |
6/42. Hydrops of placental stem villi complicated with fetal congenital adrenal hyperplasia.The authors present a case report of hydrops of placental stem villi. Numerous small aechoic spaces were demonstrated by prenatal ultrasonography. The patient spontaneously delivered a female newborn at 26 weeks' gestation. The infant showed hypertrophied clitoris and urogenital sius, and had a normal 46, XX karyotype. Endocrinological examination revealed that 3beta-hydroxysteroid dehydrogenase deficiency caused the anomaly. To our knowledge, this is the first report that congenital genital malformation complicated the placental mesenchymal dysplasia.- - - - - - - - - - ranking = 0.32369712790021keywords = gestation (Clic here for more details about this article) |
7/42. Successful treatment with ICSI of infertility caused by azoospermia associated with adrenal rests in the testes: case report.Congenital adrenal hyperplasia (CAH) is a well-recognized, but uncommon, cause of azoospermia and infertility in men. Commonly this is due to undertreatment of excessive adrenal androgen secretion which suppresses gonadotrophin stimulation of the testes. A less common complication of CAH is development of adrenal tissue within the testes; this is important to recognize because it may be confused with malignancy leading to unnecessary surgery. In this case report, a man is described with simple virilizing CAH due to 21-hydroxylase deficiency who presented with azoospermia and was found to have adrenal rests. Investigations concluded that there was adequate adrenal suppression with glucocorticoids and that azoospermia was due to obstruction by adrenal rest tissue, strategically situated at the hilum of the testes. spermatozoa were able to be retrieved by testicular aspiration from the man and these were used to successfully establish a pregnancy using intracytoplasmic sperm injection of his wife's oocytes.- - - - - - - - - - ranking = 0.088151436049894keywords = pregnancy (Clic here for more details about this article) |
8/42. Increased nuchal translucency as a prenatal manifestation of congenital adrenal hyperplasia.We present two cases of pregnant women with a previous history of congenital adrenal hyperplasia. In both cases the only abnormal feature in the initial pregnancy had been increased nuchal translucency at 10-14 weeks of gestation. The fetal karyotype was normal and a diagnosis of congenital adrenal hyperplasia was made after delivery. In their current pregnancies, both fetuses also had increased nuchal translucency and normal fetal karyotype. Diagnosis of 21-hydroxylase deficiency was made prenatally by dna analysis. These findings in four affected fetuses suggest that congenital adrenal hyperplasia should be added to the list of genetic anomalies associated with an increase in nuchal translucency.- - - - - - - - - - ranking = 0.41184856395011keywords = gestation, pregnancy (Clic here for more details about this article) |
9/42. Reversible infertility, pharmaceutical and spontaneous, in a male with late onset congenital adrenal hyperplasia, due to 21-hydroxylase deficiency.The authors describe a case of a 35-year-old man with 5-year duration infertility. history, clinical examination, and laboratory tests have established the diagnosis of late-onset congenital adrenal hyperplasia, due to 21-hydroxylase deficiency. Treatment with dexamethasone resulted in improvement of sperm quality, and 4 months later a pregnancy was achieved. Two years after the patient fathered his first child, and while he had discontinued dexamethasone treatment, he succeeded at a second pregnancy. The authors conclude that (1) late-onset congenital adrenal hyperplasia presents with significant variation during the patient's lifetime; (2) glucocorticoid administration is necessary in infertile men with nonclassic form of 21-hydroxylase deficiency; and (3) in cases of male infertility of unknown origin, the patient must be scrutinized for congenital adrenal hyperplasia, especially the nonclassic form.- - - - - - - - - - ranking = 0.17630287209979keywords = pregnancy (Clic here for more details about this article) |
10/42. Fetal sex determination from maternal blood at 6 weeks of gestation when at risk for 21-hydroxylase deficiency.BACKGROUND: 21-hydroxylase deficiency can lead to masculinization of female fetuses. Corticosteroid therapy may reduce these effects. When the fetus is male, this approach means that unnecessary treatment, with theoretic side effects, is given until the result of chorionic villus sampling (CVS), a procedure with known risks, is available. CASE: A woman was referred for prenatal assessment at 6 weeks' gestation because her first daughter had been born virilized from 21-hydroxylase deficiency. A real-time polymerase chain reaction assay was performed on maternal blood to detect the fetal y chromosome-associated SRY gene. A positive signal for the SRY gene was observed. The assay was repeated a few days later, and the result was again consistent with a male fetus. CONCLUSION: Analysis of cell-free fetal deoxyribonucleic acid in maternal plasma for fetal sex determination might reduce the need for corticosteroid administration and CVS in women with fetuses at risk for 21-hydroxylase deficiency.- - - - - - - - - - ranking = 1.6184856395011keywords = gestation (Clic here for more details about this article) |
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