Gebeliklerde düşük östriyol düzeyleri nasıl yönetilir, tek merkez deneyimi

Objective: Low estriol (uE3) levels in the second-trimester screening for Down syndrome may be the result of fetal demise, congenital abnormalities, or some genetic hormonal disorders of the fetus. Although X-linked ichthyosis, a microdeletion syndrome with mild ichthyosis, which causes steroid sulfatase (STS) deficiency, is the most common genetic cause, second-trimester screening tests calculate the risk for a less common and severe disorder known as the Smith Lemli Opitz syndrome (SLOS). We aimed to investigate the outcomes of pregnancies with low uE3 levels in Down syndrome screening and emphasize the high prevalence of STS deficiency instead of SLOS in such cases. Methods: Fifteen pregnancies with very low uE3 levels and high risk for trisomy and/or SLOS in screening tests were evaluated and tested for STS deficiency and SLOS. Results: Seven of the pregnancies had STS microdeletion syndrome, while additional two cases were supposed to have STS gene mutation according to family and/or postnatal history. Although one fetal death was recorded, no chromosomal abnormality, SLOS, or congenital malformation was recorded in our series. Conclusions: SLOS is a very severe and rare syndrome. The risk estimation for SLOS in screening tests causes stress for pregnant women and healthcare givers. We recommend the addition of risk estimation for STS deficiency when a low uE3 level is detected in the screening test.Amaç: İkinci trimester Down sendromu tarama testlerindeki düşük östriyol (uE3) seviyesi, fetal ölüm, konjenital anormallikler veya fetüsün çeşitli genetik hormonal bozukluklarından kaynaklanabilir. Steroid sülfataz (STS) eksikliğine neden olan ve hafif iktiyozla seyreden bir mikrodelesyon sendromu olan X’e bağlı iktiyoz en yaygın genetik neden olmasına rağmen, ikinci trimester tarama testleri daha az yaygın ve daha şiddetli bir hastalık olan Smith Lemli Opitz Sendromu (SLOS) için risk hesaplamaktadır. Down sendromu taramasında uE3 düzeyi düşük olan gebeliklerin sonuçlarını araştırmayı ve bu gibi durumlarda SLOS yerine STS eksikliğinin yüksek prevalansını vurgulamayı amaçladık. Yöntemler: Tarama testlerinde uE3 seviyeleri çok düşük olan ve trizomi ve/veya SLOS açısından yüksek risk taşıyan on beş gebelik STS eksikliği ve SLOS açısından değerlendirilmiş ve test edilmiştir. Bulgular: Gebeliklerin yedisinde STS mikrodelesyon sendromu bulunurken, ek iki olguda aile ve/veya doğum sonrası öyküye dayanarak STS gen mutasyonu düşünüldü. Bir fetal ölüm tespit edildi. Ek kromozom anomalisi, SLOS veya konjenital malformasyon tespit edilmedi. Sonuçlar: SLOS çok ağır seyreden ve nadir görülen bir sendromdur. Tarama testlerinde SLOS için risk tahmini hamileler ve sağlık çalışanları için strese neden olmaktadır. Anksiyeteyi önlemek için tarama testlerinde düşük bir uE3 seviyesi tespit edildiğinde STS eksikliği için risk tahmininin eklenmesini öneririz

Common polymorphisms of growth hormone: Growth hormone receptor axis in Turkish children with short stature

Objective: A single-nucleotide polymorphism of the growth hormone 1 gene, GH1IVS4+90A>T (rs2665802), associated with short stature and a polymorphism of the growth hormone receptor gene, exon 3 deleted variant, associated with increased responsiveness to growth hormone have been reported previously. We aimed to investigate the frequency of both polymorphisms and their correlation to height in Turkish short children. Also, we aimed to evaluate the effect of exon 3 deleted variant on response to 1-year growth hormone therapy. Materials and Methods: Children with idiopathic isolated growth hormone deficiency (n = 39) and with idiopathic short stature (n = 10) and 50 control subjects were evaluated for anthropo-metric parameters, annual growth velocity, and annual height gain. Growth hormone receptor gene polymorphisms were analyzed via multiplex polymerase chain reaction; growth hormone 1 gene polymorphism was analyzed via polymerase chain reaction and single-strand confor-mation polymorphism techniques. Results: The frequency of genotypes carrying the “A” allele was not significantly higher in the idiopathic isolated growth hormone deficiency group than in the idiopathic short stature and control groups (P = .03 for each). The exon 3 deleted variant genotype was significantly lower in the idiopathic short stature group compared to the control group (P = .01). There was no effect of exon 3 deleted variant, on response to the first-year growth hormone therapy. Conclusion: In Turkish population, no correlation was found between the “A” allele of GH1IVS4+90A>T polymorphism and idiopathic isolated growth hormone deficiency and short stature, and a significant negative correlation was found between exon 3 deleted variant and idiopathic short stature and short stature. Exon 3 deleted variant has no effect on response to growth hormone treatment.Istanbul Universit

Effects of chromosomal translocations on sperm count in azoospermic and oligospermic cases

Purpose: A number of mechanisms have been proposed for the effect of chromosomal translocations on spermatogenesis and sperm maturation. However, there are still numerous ambiguous issues regarding these two processes. The aim of this study is to evaluate the effect of chromosome break areas on sperm count in the light of the literature. Material and Methods: The study was conducted on the data of 16 male patients with reciprocal or Robertsonian translocation among 152 patients who were admitted to Adana Numune Training and Research Hospital and Kanuni Sultan Suleyman Training and Research Hospital Genetic Diagnosis Centers between 2013 and 2016 due to azoospermia and oligospermia. Results: 11 of these patients had reciprocal and five patients had Robertsonian translocations. All the patients with Robertsonian translocations were detected with azoospermia. Of the patients with reciprocal translocation, five of them were azoospermic and six of them were severe oligospermic. Conclusion: A total of 21 chromosomal breakpoints were identified in the 11 patients with reciprocal translocations. These chromosomal breakpoints may contribute to the clarification of ambiguous issues related to spermatogenesis and sperm maturation. The results also showed the importance of genetic counselling in patients with translocations

The comparison of the mrna expressions of tgf?1, bfgf, ıgf-1, ngf and matrix metalloprotease iii genes in cervical and lumbar disc tissues

Aim: To evaluate and compare the mRNA expression of antioxidant genes between the cervical and lumbar degenerated disc tissues. Material and Methods: Obtained degenerated Nucleus Pulposus (DNP) materials were divided into two groups, which were cervical DNP (Group I) (n=20) and lumbar DNP (Group II) (n=20). There are 6 men and 14 women in group I with a mean age of 43.8 years and 13 men and 7 women in group II with the mean age of 40.3 years (28 to 54). All cervical DNP materials were obtained between C5 and C6 and all lumbar DNP materials were obtained between L4 and L5 levels. The TGF?1, bFGF, IGF-1, NGF and Matrix metalloprotease III (MMP III) gene expressions of DNP materials were determined by polymerase chain reaction, Real-time polymerase chain reaction and western blotting techniques.Results: When the results of the two groups were compared by polymerase chain reaction, the expressions of TGF?1, bFGF, IGF-1, NGF and MMP III was found lower in lumbar DNP group. Also the TGF?1, bFGF, IGF-1, NGF, and Matrix metalloprotease III genes showed a decrease in gene expression levels when they were analyzed by Real-time polymerase chain reaction. Conclusion: These data showed that; decrease of the TGF?1, bFGF, IGF-1, NGF and MMP III genes in the degenerated lumbar disc tissues, may related with the possibility of molecular background of the disease pathogenesis

DiGeorge sendromunda sol pulmoner arterden köken alan sol subklavyen arter

Left subclavian artery originating from the left pulmonary artery is a rare aortic arch anomaly. Herein, we, for the first time in Turkey, present a case of left subclavian artery originating from the left pulmonary artery via ductus arteriosus in DiGeorge syndrome and causing subclavian steal syndrome.Sol pulmoner arterden köken alan sol subklavyen arter, nadir bir arkus aorta anomalisidir. Bu yazıda, Türkiye’de ilk kez, DiGeorge sendromunda duktus arteriyozus ile bağlantılı solpulmoner arterden köken alan ve subklavyen çalma sendromunaneden olan sol subklavyen arter olgusu sunuldu

A new variant of the ıer3ıp1 gene: the first case of microcephaly, epilepsy, and diabetes syndrome 1 from Turkey

Microcephaly, Epilepsy, and Diabetes Syndrome 1 (MEDS1) is a rare autosomal recessive disorder and caused by defects in the IER3IP1 (Immediate Early Response 3 Interacting Protein 1) gene. Only 9 cases have been described in the literature. MEDS1 manifests as microcephaly with simplified gyral pattern in combination with severe infantile epileptic encephalopathy and early-onset permanent diabetes. A simplified gyral pattern has been described in all cases reported to the date. Diagnosis is made by demonstration of specific mutations in the IER3IP1 gene. In this study, we present an additional case of a patient with MEDS1 who is homozygous for the c.53C >T p.(Ala18Val) variant. The case, the first to be reported from Turkey, differs from other cases due to the absence of a typical simplified gyral pattern on early brain MRI, the late onset of diabetes, and the presence of a new genetic variant. The triad of microcephaly, generalized seizures and permanent neonatal diabetes should prompt screening for mutations in IER3IP1

Erkek İnfertilitesi ile Başvuran Hastalarda Spermiogram, Hormonal Profil ve Genetik Analiz Sonuçlarının Karşılaştırmalı Analizi: Tek Merkez Deneyimi

Amaç: Bu çalışmanın amacı, hastanemize infertilite nedeniyle başvuran erkeklere yardımcı üreme tekniklerinden önce uygun genetik danışmanlık verebilmek için, azospermi ve/veya oligozoospermi etiyolojisine yönelik standart sitogenetik yöntemler ve Y kromozom mikrodelesyon analizleri ile hem majör kromozom anomalilerinin hem de Y kromozomu mikrodelesyonlarının sıklığı ve tiplerini araştırmaktır. Gereç ve Yöntemler: Çalışmamıza 2017-2020 yılları arasında erkek infertilitesi nedeniyle Kanuni Sultan Süleyman Eğitim ve Araştırma hastanemize başvuran toplam 437 hasta dâhil edildi. Tüm hastalar spermiogram, hormonal profil, kromozom analizi ve Y mikrodelesyon analizleri doğrultusunda değerlendirildi. Bulgular: Çalışmamızda toplam 437 hastanın 42’sinde (%9,6) kromozomal anomaliler tespit edildi. En sık görülen kromozomal anomali 47,XXY(Klinefelter sendromu) idi. 5 hastamızda dengeli translokayonlar vardı. 1 hastada ise marker kromozom tespit edildi. Geriye kalan 395 hastanın kromozom analizi normaldi. 44 hastamızda (%10,06) ise AZF genleri üzerinde çeşitli y-kromozomu mikrodelesyonları saptandı. 1 hastada AZFa delesyonu, 4 hastada AZFb+c delesyonu, 17 hastada AZF-c gr/gr delesyonu, 2 hastada komplet AZFa+b+c delesyonu, 2 hastada komplet AZFc delesyonu, 1 hastada parsiyel AZFb delesyonu, 9 hastada kısmi AZFb+c delesyonu, 8 hastada parsiyel AZFc delesyonu tespit edildi. Geriye kalan 393 hastada herhangi bir Y kromozomu mikrodelesyonu saptanmadı. Sonuç: Mevcut bilgiler ve geçmişteki literatür çalışmaları eşliğinde özellikle şiddetli oligospermi ve azospermili hastalarda kromozom analizi ve Y mikro delesyonu analizlerini yardımcı üreme tekniklerinden önce önermekteyiz

İkinci Trimester Sonografik Taramasında Multipl Yapısal Anomaliler Gösteren Trizomi 22 Olgusu ve Literatür Derlemesi

Non-mosaictrisomy 22 is one of the common causes of first trimester abortions. It is occasionally observed in live births with an incidence of 1/30000-50000. Its detection is rare in the second or third trimesters as well, and is manifested with serious growth retardation and multiple structural abnormalities on fetal ultrasonography. Herein, we report a case with an abnormal fetal karyotype demonstrating trisomy 22 by cordosynthesis, that was referred to our Medical Genetic Polyclinics due to multiple abnormalities on the second trimester fetal ultrasonography, and subsequently discuss the prenatal ultrasonographic characteristics of trisomy 22 cases in the literature. This study was meant to highlight the importance of prenatal karyotype analysis in abnormal sonographical findings with regard to the presence of possible aneuploidies, which generally result in first trimester abortions, but that may be observed in the second trimester although occasionally, and to emphasize the importance of a detailed genetic counselling due to the risk of a repetition in the following pregnanciesMozaik olmayan trizomi 22, ilk trimester abortuslarının yaygın nedenlerinden biridir. Canlı doğumda görülme oranı oldukça düşüktür ve yaklaşık 1/3000050000'dir. İkinci ve üçüncü trimesterde saptanma oranı da oldukça düşüktür ve fetal ultrasonografide (USG) ciddi büyüme geriliği ve multipl yapısal anomaliler ile kendini gösterir. Bu makalede, ikinci trimesterde fetal ultrasonda multipl anomali nedeni ile Tıbbi Genetik Polikliniği'ne yönlendirilen ve kordosentez ile yapılan fetal karyotip analizi sonucu trizomi 22 bulunan bir fetus sunulmuş ve literatürdeki trizomi 22 olgularının prenatal sonografik özellikleri tartışılmıştır. Genellikle ilk trimester abortusu ile sonuçlanan anöploidilerin, nadir de olsa ikinci trimesterde karşımıza anormal USG bulguları ile çıkabileceği, anormal USG bulgularında prenatal karyotip analizinin önemi ve anöploidilerin sonraki gebeliklerde tekrarlama riski nedeniyle ayrıntı bir genetik danışma verilmesinin önemi vurgulanmak istenmişti