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Case Reports 2014; 35(Suppl 2): 211-213 PubMed PMID: 25638389 Citation  Keywords:  Choristoma:congenital, Glioma:congenital, Humans, Infant, Newborn, Male, Neuroglia:pathology, Nose Neoplasms:congenital,.   

: Neuroglial heterotopia is a rare developmental abnormality. Most frequently the diagnosis is established at birth or in early childhood by a typical clinical presentation. Neuroglial heterotopia can be intracranial or extracranial. A typical example of extracranial heterotopia is nasal glioma, which can be isolated or can communicate directly with the intracranium. The most sensitive investigation for the confirmation of its site is magnetic resonance imaging. Histological investigation is crucial in establishing the diagnosis. The authors present the case of postnatally assessed nasal glioma. They emphasize the importance of detailed prenatal investigation as most important in preventing birth trauma and consequent complications.

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Comparative Study 2012; 33(8): 787-791 PubMed PMID: 23391972 Citation  Keywords:  17-alpha-Hydroxyprogesterone:blood, Adolescent, Adrenal Hyperplasia, Congenital:drug therapy, Androgens:blood, Androstenedione:blood, Anti-Inflammatory Agents:therapeutic use, Child, Child, Preschool, Dehydroepiandrosterone:blood, Female, Fingers:anatomy .   

OBJECTIVES: Excessive hyperandrogenism, though proper hydrocortisone supplementation is a frequent clinical problem in girls with congenital adrenal hyperplasia (CAH). This may result from autonomic regulation of androgen production established in prenatal life. It has been suggested that the length of the second finger relative to the length of the fourth finger (2D;4D ratio) is negatively related to prenatal testosterone concentration.

DESIGN AND SETTING: The retrospective study aimed to establish the relationship between the level of androgenization in utero determined using 2D:4D ratio and serum androgen concentrations in treated girls with CAH (21-OH deficiency) has been performed on 19 girls with CAH (21-OH deficiency) at the age of 3.7-19 years (mean 13.8 ± 4.07 years). All subjects were adequately treated with hydrocortisone (10-19 mg/m2; mean 13.81 ± 4.07 mg/m2). Anthropometric measurements of digits length were performed in all girls on X-rays obtained for bone age estimation. Apart from it, serum androgens concentrations (testosterone, androstenedione, s-DHEA) and 17-OH-progesterone (17-OHP) were assayed.

RESULTS: Mean androgens serum concentrations in examined group were: testosterone 150.21 ± 155.44 ng/ml; androstenedione 4.15 ± 5.32 ng/ml, s-DHEA 70.39 ± 85.52 µg/dl. Mean 2D:4D ratio was 0.96 ± 0.04. Analysis of correlation showed positive linear correlations between testosterone, s-DHEA and 2D:4D ratio (r=0.53, p=0.023 and r=0.53; p=0.019, respectively).

CONCLUSIONS: 2D:4D ratio parameter may be a simple test in indentification of female CAH patients prone to excessive androgen secretion despite proper treatment. The autonomization of adrenal androgens production in foetal life may cause its elevated levels in female patients with CAH although treated adequately....

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Historical Article 2012; 33(3): 304-313 PubMed PMID: 22635090 Citation  Keywords:  Animals, Congenital Abnormalities:history, History, 19th Century, History, 20th Century, History, Ancient, Humans, Neuroendocrinology:history, Teratology:history,.   

: Teratology is the science of congenital developmental disorders (CDDs), overt or latent defects of the organism resulting from the effect of internal and external factors on developmental processes. In this article the significance and position of present-day teratology is discussed in the context of development of this branch of science and related disciplines. The authors present an updated overview of the most important milestones and stages of the development of teratology. Based on the analysis of the historical development of theses and theories that represent a decisive contribution to this field, we present a survey of the fundamental principles of experimental and clinical teratology. The aim of observing these principles is to get insight into developmental relations and to understand mechanisms of action on the level of cell populations (elementary morphogenetic processes), tissues and organs. It is important to realize that any negative intervention into the normal course of these processes, either on genetic or non-genetic basis, inevitably leads to a sequence of subsequent changes resulting in the development of congenital developmental disorders. Despite modern approaches of molecular biology and genetics, along with top diagnostic techniques, we are still not able to identify the actual cause in more than 50% of all congenital defects. One-half of the unidentified cases are referred to as "multifactorial", a term that is rather ambiguous. It either means that some of the basic principles of teratogenesis still escape our attention, or the interpretation of some of the well known principles might be misleading. A third possibility is rather pessimistic. The development of the individual is so sophisticated and dependent on a delicate network of a multitude of factors mutually affecting each other that it is extremely prone to give rise to a plethora of spontaneous errors which are unpredictable and impossible to prevent. Nevertheless, the long and complicated history of scientific endeavour has yielded considerable present-day knowledge on causes and mechanisms of CDDs, a history whose beginnings date back to antiquity....

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Evaluation Studies 2011; 32(Suppl 1): 53-56 PubMed PMID: 22167208 Citation  Keywords:  Abortion, Eugenic:statistics & numerical data, Abortion, Spontaneous:epidemiology, Antidepressive Agents:adverse effects, Case-Control Studies, Congenital Abnormalities:epidemiology, Czech Republic:epidemiology, Depression:drug therapy, Drug Information S.   

OBJECTIVES: Antidepressant drugs are used frequently during pregnancy. The risk assessment of SSRI exposure is still evaluated and re-opened due to studies indicating possible increase of inborn defects, neonatal abstinence syndrome and cognitive ability or behavioral defects.

METHODS: In our study, we prospectively followed groups of pregnancies in years 2002-2009, that were exposed to SSRI. As control group we used 1) women exposed to new atypical antidepressant and anti-psychotics - APD (risperidone, mirtazapine, venlafaxine, trazodone, aripiprazole, ziprasidone, olanzapine), 2) women exposed to nonteratogenic drugs and 3) the general population according to Institute of Health Informations and Statistics (ÚZIS.) Data were analyzed using software Statistica for Windows No.5.5.

RESULTS: The total number of queries on psychotropic drugs performs in CZTIS more than 30% of all calls, constantly. We enrolled a total of 43 women exposed to SSRI and 37 women (1x twins) exposed to new psychotropic drugs (APD) in the study. Exposure to SSRI was often associated with poly-therapy. The most frequent SSRI used were citalopram and/or escitalopram (56%), and setraline (26%). Other SSRI were used sporadically. We observed significantly higher frequency of elective terminations in group of SSRI and higher frequency of abortions a prematurity in APD group. Frequency of malformations does not varied, being in all groups in expected range.

CONCLUSIONS: We confirmed that SSRI exposure during pregnancy was not associated with the higher risk of major malformation. However, number of cases was low and did not allow the statistical treatment with higher power....

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Case Reports 2011; 32(5): 623-626 PubMed PMID: 22167132 Citation  Keywords:  Adult, Airway Obstruction:congenital, Constriction, Pathologic:diagnostic imaging, Fatal Outcome, Female, Fetal Diseases:diagnostic imaging, Humans, Infant, Newborn, Infant, Newborn, Diseases:diagnosis, Larynx:abnormalities, Lung:abnormalities, Pregnancy,.   

: Congenital high airway obstruction syndrome (CHAOS) is a very rare fetal malformation caused by obstruction of fetal airway because of laryngeal or tracheal atresia, subglottic stenosis, laryngeal cyst or laryngeal web. The prenatal diagnosis is inferred from secondary changes such as enlarged, hyperechogenic lungs, ascites and/or hydrops, flattened or everted diaphragms, dilated distal airways and mediastinal compression. There are only few cases of long-term survival described in literature. We present the case of fetus with such secondary changes diagnosed during routine ultrasound evaluation in 20 weeks' gestation. There were no other abnormalities and the kariotype was normal. In 26 weeks' gestation fetal hydrops appeared and subsequent polyhydramnios occurred in 28 weeks' gestation. The patient was planned for EXIT procedure during labor in experienced in CHAOS cases center. In 29 weeks' gestation the premature rupture of membranes and regular uterine contractions occurred and we've performed cesarean section. A multidisciplinary team of neonatologists, laryngologists and pediatric surgeons made their efforts to save the newborn, but there was complete laryngeal atresia and tracheal agenesia and immediate tracheostomy was impossible. The most important about CHAOS are early diagnosis, detailed fetal assessment and an adequate postnatal intervention for establishing fetal airways....

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Case Reports 2009; 30(3): 322-326 PubMed PMID: 19855353 Citation  Keywords:  Acromegaly:diagnosis, Congenital Hypothyroidism:diagnosis, Diagnosis, Differential, Humans, Male, Middle Aged, Thyroid Dysgenesis:diagnosis,.   

: Since introduction of population-based neonatal screening for congenital hypothyroidism (CH), cases of long-term untreated inborn hypothyreosis have become very rare whereas its clinical symptoms are currently not well known. We report a patient with CH due to an ectopic thyroid. The presented case is exceptional due to both advanced age of diagnosis and unusual clinical presentation, as the anomaly was detected during evaluation of suspected acromegaly at the age of 62. This report indicates that there is still necessity of considering, in spite of its rarity, congenital form in differential diagnosis of hypothyroidism....

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Journal Article 2009; 30(2): 262-267 PubMed PMID: 19675521 Citation  Keywords:  Adolescent, Adrenal Hyperplasia, Congenital:pathology, Child, Child, Preschool, Disorders of Sex Development:pathology, Female, Genitalia:abnormalities, Genitalia, Female:abnormalities, Humans, Infant, Male, Reconstructive Surgical Procedures, Treatment O.   

INTRODUCTION: Ambiguous genitalia always present diagnostic and therapeutic problem. Long-term results of feminizing operations are unsatisfactory in some cases and reports from follow-up after feminizing genitoplasty are rare in the literature. Systematic studies are needed to evaluate ultimate function of all girls undergoing feminizing surgery. In our opinion, the lack of worldwide-accepted scale for the assessment of long-term effects of feminizing genitoplasty, enabling the possibility of comparing outcomes between institutions and countries, may contribute to this deficit of reliable data.

AIM: The aim of the study was the evaluation of the outcomes of surgical management of masculinization using a novel scale developed by the authors.

MATERIAL AND METHODS: We examined 43 patients aged 3-24 years (mean age 15,4 years) operated due to ambiguous genitalia. Most of the patients were females with congenital adrenal hyperplasia (CAH) diagnosed in 38 of subjects (88.4%).The patients were operated at the age from 10 months - 15 years (mean age 4,5 years). Five patients had to be reoperated. The effects of surgical management in ambiguous genitalia were assessed using our own scale. We evaluated five anatomical and cosmetic parameters (general appearance, size of pudendal labia, symmetry of pudendal labia symmetry, size and position of clitoris, size of introitus and position of urethra opening), each of them was scored 0-2 points.

RESULTS: In 36 of examined patients the result of the surgery was considered good, in 4 patients - satisfactory and in 3 - poor. The most common complication of feminizing genitoplasty in our patients was stenosed vagina (in 10 patients, 23.8%). Location of urinary coil in anterior wall of vagina was found in 6 patients (13.9%) and in 1 patient it was invisible (2.3%). Post-operational clitoral enlargement was found in 3 cases (6.9%).

CONCLUSION: Taking into consideration controversial data about the results of feminizing genitoplasty, a standarized, well-defined and commonly accepted scale enabling comparison between methods and institutions is necessary. In our opinion scoring scale makes the evaluation more precise and the results are more comparable....

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Comparative Study 2007; 28(4): 406-409 PubMed PMID: 17693969 Citation  Keywords:  Aneuploidy, Asian Continental Ancestry Group:genetics, China, Congenital Abnormalities:ethnology, DNA:genetics, Female, Fetus:abnormalities, Fluorescent Dyes, Genomic Instability:genetics, Humans, Male, Nucleic Acid Hybridization:methods, Reproducibility .   

AIM: The purpose of the study was to evaluate the feasibility and reliability of comparative genomic hybridization (CGH) in the detection of genomic imbalances in Chinese malformed fetuses.

METHODS: Genomic DNA was extracted from umbilical cord blood or fresh amniotic fluid of 9 malformed fetuses and labeled with SpectrumGreen dUTP or SpectrumRed dUTP. A pair of CGH analyses in which the fluorochromes were exchanged was carried out for each sample.

RESULTS: Samples from 9 malformed fetuses were analyzed successfully by CGH. Numerical chromosome aberrations were detected in samples from cases 4, 8 and 9, and were verified by fluorochrome-exchanged CGH. Trisomy 21q was detected in case 4, del 2p24-pter and dup 12p13 was detected in case 8, and del 1p33-pter and del 22q11-12 were detected in case 9.

CONCLUSION: CGH is a reliable technique for the detection of genomic imbalances. Fluorochrome-exchanged CGH can reduce inconsistencies in the results caused by deviations in the process of DNA labeling and hybridization, and increase the accuracy and reliability in cases when conventional cytogenetic analysis is unavailable....

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