case with late onset of ambiguous genitalia

Background: ambiguous genitalia is an uncommon situation that happens between 1 and 2 per every 1000 live births and falls under the umbrella diagnosis of disorders of sexual development

Case: in this article, we report a case of male pseudohermaphroditism with ambiguous genitalia. The proband was a 12 yr old girl without any uterus or ovarian tissues. Karyotype of the case is 46, XY. Genes involved in sexual differentiation such as AR, SRD5A2, LH, LHR, FSH, 17 B HSD and SRY genes were sequenced in both directions. No mutations were found in these genes either

Conclusion: it seems advisable to be cautious in similar cases, and revise protocol for tracing the genes involved in the patients

Perinatal complications associated with preterm deliveries at 24 to 33 weeks and 6 days gestation [2011- 2012]: a hospital-based retrospective study

Background: Morbidity and mortality of preterm babies are important issues in perinatal medicine. In developed countries, preterm delivery is the cause of about 70% of mortality and 75% of morbidity in the neonatal period, respectively

Objective: The aim of this study was to determine the risk factors for preterm labor and the outcomes, in terms of perinatal mortality and morbidity at the time of discharge home, among preterm infants at less than 34 weeks gestation

Materials and Methods: A retrospective study was conducted and all infants with a gestational age of 24 to 33 weeks and 6 days who were born from November 1st, 2011 to March 31, 2012 were enrolled in this study

Results: From 1185 preterm infants were born during this period, 475 [40.08%] infants with less than 34 weeks gestational age were included in the study. Our study showed the major obstetrical risk factors for preterm labor were as follows: preeclampsia [21%], premature rupture of membranes [20.3%], abruption of placenta [10%], and idiopathic cases [48.7%]. The neonatal mortality rate in less than 34 weeks was 9.05%. Significant perinatal morbidity causesd in less than 34 weeks were as follows: sepsis [46.94%], respiratory distress syndrome [41.47%], patent ductus arteriosus [21.47%], retinopathy of prematurity [3.57%], necrotizing entrocolitis [1.68%], intra-ventricular hemorrhage [9%], and broncho-pulmonary dysplasia [0.84%]

Conclusion: Preterm birth is associated with adverse perinatal outcome. This situation needs to be improved by directing appropriately increased resources for improving prenatal health services and providing advanced neonatal care

Can we rely on the multiplex ligation-dependent probe amplification method [MLPA] for prenatal diagnosis?

The major aneuploidies that are diagnosed prenatally involve the autosomal chromosomes 13, 18, and 21, as well as sex chromosomes, X and Y. Because multiplex ligation-dependent probe amplification [MLPA] is rapid and non-invasive, it has replaced traditional culture methods for the screening and diagnosis of common aneuploidies in some countries. To evaluate the sensitivity and specificity of MLPA in a cross-sectional descriptive study for the detection of chromosomal aneuploidies in comparison to other methods. Genomic DNA was extracted from the peripheral blood samples of 10 normal controls and the amniotic fluid of 55 patients. Aneuploidies screening of chromosomes 13, 18, 21, X and Y were carried out using specific MLPA probe mixes [P095-A2]. For comparison purposes, samples were also tested by Quantitative Fluorescent-PCR [QF-PCR] and routine chromosomal culture method. Using this specific MLPA technique and data-analyzing software [Genemarker v1.85], one case was diagnosed with 45, X [e.g. Monosomy X or Turner's Syndrome], and the remaining 54 cases revealed normal karyotypes. These results were concordant with routine chromosomal culture and QF-PCR findings. The experiment demonstrates that MLPA can provide a rapid and accurate clinical method for prenatal identification of common chromosomal aneuploidies with 100% sensitivity and 100% specificity

de novo reciprocal x; 9 translocation in a patient with premature ovarian failure

Premature ovarian failure [POF] causes hypergonadotrophic amenorrhea in 1-3% of females, occurring before the age of 40 among women with chromosomal rearrangements in the long arm of the X chromosome 'critical region'. In this article, we report a case of POF and primary amenorrheain a girl with a de novo reciprocal translocation between chromosomes X and 9. The proband was a 17 years old girl with a history of irregular menstruation and high level of follicle-stimulating hormone [FSH] [151 mlU/mL] and luteinizing hormone [LH] [56 mlU/mL]. In ultrasound examination, left ovarian gonad was atrophic without any follicles. Right ovarian gonad was not seen. Cytogenetical analysis was performed on the patient and her parents. Her karyotype results was 46, X, rcp [X; 9] [q24; q13] dn. Her parents had normal karyotype. This reciprocal translocation between chromosome X and 9 and observed POF in the patient suggest either the disruption of a critical gene expression due to 'position effect' or deletion of one or more POF-related genes in the disrupted long arm of the affected X chromosome

Maternal and neonatal complications of substance abuse in Iranian pregnant women

There is an increased prevalence of maternal substance abuse during pregnancy in younger women in all socioeconomic classes and races. Our aim was to determine the prevalence and correlates of self-reported substance abuse among pregnant women and obstetric complications or neonatal outcomes in Iran. This retrospective cohort study is covering a five year period on medical records of pregnant women attending the maternity unit of four major hospitals [Mahdieh, Taleghani, Imam Hossein and Akbarabadi Hospitals]. Women who reported using opium, heroin, crack, cannabis or methamphetamine were compared with women with no reported history of drug abuse for obstetric complications and prenatal morbidity and neonatal mortality. From 100,620 deliveries substance abuse was recorded for 519 women giving a prevalence of 0.5%. Opium was the most prevalent substance abused followed by crack [a mix of heroin and amphetamines]. The exposed group had significantly more obstetric complications including preterm low birth weight and postpartum hemorrhage than the non-exposed group. The exposed group had significantly worse prenatal outcomes including more admissions to intensive care unit and higher infant mortality than the non-exposed group. None of the women in the exposed group was on methadone treatment at time of delivery. Risks of maternal and neonatal complications were increased in substance using pregnant women, especially preterm birth and low birth weight. We recommend a multidisciplinary team to provide methadone maintenance therapy for substance using pregnant women and urinary screen of all pregnant women presenting to hospital

Perinatal complications in substance using in pregnancy

Substance abuse is a major public health issue in all over the world. The types and ingredients of drugs used in our country are different from other countries. The study was conducted to determine relationship between substance abuse during pregnancy, and perinatal complications in Iran. A retrospective cohort study was carried out over a 6 years period on all the substance user pregnant women [519 cases] and 519 non users attending 4 major educational university hospitals labor ward. All the substance user pregnant mothers abusing heroin, opium, crack, cannabis, crystal, methadone, and polydrug were included and compared to non-exposed ones. Our study demonstrated a 0.5% prevalence of substance abuse in pregnant women. Opium [62.6%] was the most prevalent substance followed by crack [20.3%]. Pre-term birth was higher in all substance user groups, the most in crack group [45.8%] with relative risk of 2.55. Neonatal abstinence syndrome developed in 38.7% of infants born of addicted mothers [40.4% crack, 38.6% opiates, 35.3% crystal and 45.5% poly drug use]. Neonatal birth weight of infants of mothers using crack, opium and polydrug were significantly lower to non users [P<0.05]. Neonatal Intensive Care Unit [NICU] admission in substance using mothers was significantly higher than non-users [P < 0.001]. Neonatal death was 10.1% in crack group [RR=3.48] and 5.8% in opium user group [RR=2.79] with significant difference with non-users [P<0.05]. The frequent types of substances used during pregnancy in our country are different from others [opium was the most prevalent substance]. Subsequently the frequencies of the complications during pregnancy are different. Substance abuse during pregnancy has increased risk of pre-term birth, Small for Gestational Age, NICU admission and neonatal death

Pregnancy complicated by lymphangioleiomyomatosis

Lymphangioleiomyomatosis, a multisystem disease characterized by cystic lung lesions can result in respiratory failure and is considered to be sex hormones related. No effective treatment for lymphangioleiomyomatosis is currently available. We report a 35-year-old patient in her second pregnancy. She also had experienced five episodes of spontaneous pneumothorax at the age of 30. Despite excessive estrogen production during pregnancy she had mild non-progressive exertional dyspnea without limitation of daily activities during pregnancy without deterioration of respiratory status

Uniparental disomy resulting from heterozygous Robertsonian translocation [13q14q] in both parents

Uniparental disomy [UPD] is a situation in which both members of a chromosome pair are inherited from one parent. This study has been conducted on a family with a five year-old healthy girl and a mentally retarded boy. The parents were first cousins and they both had Robertsonian translocation between their long arm of chromosome 13 and 14 [45, XY t [13q14q]]. Their affected son had a similar karyotype. Their daughter's karyotype revealed the presence of a homozygous Robertsonian 13/14 translocation 44, XX t [13q14], t [13q14q]. According to the clinical findings it is possible to conclude that the affected boy suffers from UPD

Androgen receptor gene mutations in 46, XY females

The androgen insensitivity syndrome is a heterogeneous disorder with a wide spectrum of phenotypic abnormalities, ranging from complete female to ambiguous forms that more closely resemble males. The primary abnormality is a defective androgen receptor protein due to a mutation of the androgen receptor gene. This prevents normal androgen action and thus leads to impaired virilization. A point mutation of the androgen receptor gene affecting two siblings with complete androgen insensitivity syndrome is described. On examination they both had normal external female genitalia. Genomic DNA was extracted from EDTA-preserved blood samples and isolated according to standard procedures. The androgen receptor gene was screened for mutations using an automated sequence analyzer [ABI Prism 310]. Both girls possess one substitutions [G>A at position 2086 in exon 4], leading to D695N mutation. Mother was found to be a heterozygous carrier for this mutation. GTG banded karyotype of the girls showed they both have male karyotype [46, XY]. In addition, the SRY gene screening showed they both have intact SRY gene. The labioscrotal folds contained palpable gonads measuring 1.5 cm in largest diameter. Ultrasound examination of the pelvis revealed absence of the uterus. Serum follicle stimulating hormone [FSH], luteinizing hormone [LH], and testosterone values were higher than normal range. To our knowledge this is the first confirmed instance of AIS due to an AR mutation occurring in familial cases in this country. Furthermore, the phenotype has complete association with this mutation