Clustering of male infertility in the families of couples treated with intracytoplasmic sperm injection

Meschede, Dieter; Lemcke, B.; Behre, Hermann M.; Geyter, Ch. De; Nieschlag, Eberhard; Horst, Jürgen

doi:10.1093/humrep/15.7.1604

Cited by 67 publications

(46 citation statements)

References 30 publications

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“…Concerning the underlying pathophysiology, a substantial genetic contribution can be assumed from family studies as well as from animalmostly mouse knockout models (1,2,3,4). The most frequent genetic causes of severe oligo-or azoospermia are Klinefelter syndrome (47,XXY), structural chromosomal abnormalities (e.g.…”

Section: Introductionmentioning

confidence: 99%

MECHANISMS IN ENDOCRINOLOGY: Aberrations of the X chromosome as cause of male infertility

Röpke

Tüttelmann

2017

European Journal of Endocrinology

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Male infertility is most commonly caused by spermatogenetic failure, clinically noted as oligo-or a-zoospermia. Today, in approximately 20% of azoospermic patients, a causal genetic defect can be identified. The most frequent genetic causes of azoospermia (or severe oligozoospermia) are Klinefelter syndrome (47,XXY), structural chromosomal abnormalities and Y-chromosomal microdeletions. Consistent with Ohno's law, the human X chromosome is the most stable of all the chromosomes, but contrary to Ohno's law, the X chromosome is loaded with regions of acquired, rapidly evolving genes, which are of special interest because they are predominantly expressed in the testis. Therefore, it is not surprising that the X chromosome, considered as the female counterpart of the maleassociated Y chromosome, may actually play an essential role in male infertility and sperm production. This is supported by the recent description of a significantly increased copy number variation (CNV) burden on both sex chromosomes in infertile men and point mutations in X-chromosomal genes responsible for male infertility. Thus, the X chromosome seems to be frequently affected in infertile male patients. Four principal X-chromosomal aberrations have been identified so far: (1) aneuploidy of the X chromosome as found in Klinefelter syndrome (47,XXY or mosaicism for additional X chromosomes). (2) Translocations involving the X chromosome, e.g. nonsyndromic 46,XX testicular disorders of sex development (XX-male syndrome) or X-autosome translocations. (3) CNVs affecting the X chromosome. (4) Point mutations disrupting X-chromosomal genes. All these are reviewed herein and assessed concerning their importance for the clinical routine diagnostic workup of the infertile male as well as their potential to shape research on spermatogenic failure in the next years.

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Section: Introductionmentioning

confidence: 99%

MECHANISMS IN ENDOCRINOLOGY: Aberrations of the X chromosome as cause of male infertility

Röpke

Tüttelmann

2017

European Journal of Endocrinology

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“…По данным D. Meschede et al, у детей выявляет-ся высокая частота развития врожденных ано-малий хромосом и аутосомных транслокаций. Возможно, в некоторых случаях это является наследуемым признаком и передается потом-ству, что повышает у них риск развития бес-плодия [7]. По данным K.J.…”

Section: Introductionunclassified

Causes of patients’ obstetric complications after ART

et al. 2017

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Chronic placental insufficiency remains a major cause of perinatal morbidity and mortality. In this regard, prediction of this pregnancy complications becomes particularly relevant. Currently, the frequency of pregnancy as result of assisted reproductive technology (ART) increases among the population. Pregnancies after ART administration compare to naturally occurred are accompanied by a higher risk of miscarriage as well as the formation of placental insufficiency. Older women with endocrine and physical disorder participate in the ART programs most frequently. The aim of our study was to investigate the course of pregnancy, after ART administration, selection groups threatened by the development of placental insufficiency. 261 medical records of women with singleton pregnancies after ART have been studied. It was the main group. 167 women had a chronic placental insufficiency. There were allocated two groups of pregnant women: group I – 86 patients with placental insufficiency and preeclampsia, group II – 81 women with placental insufficiency indeed. The comparison group consisted of 30 women without infertility with a normal singleton pregnancy. The development of placental insufficiency in the main group (after ART) depends on a large causes of somatic pathology due to age of pregnant women as well. Therefore, patients after ART have to allocate in the high risk group of developing preeclampsia and placental insufficiency.

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“…По данным D. Meschede и др., у них выявляется высокая частота развития врожденных аномалий хромосом и аутосом-ных транслокаций. Возможно, это является наследуемым признаком и передается потом-ству, что повышает у них также риск развития бесплодия [7][8][9]. По данным K.J.…”

Section: Introductionunclassified

Functional morphology of the placental villous tree at term singleton pregnancies, achieved by methods of assisted reproductive technology

2016

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■ Введение. Особый интерес при использовании методов вспомогательных репродуктивных техноло-гий (ВРТ) представляет собой плацента, как главный орган, обеспечивающий формирование и рост плода. Цели и задачи. Целью нашего исследования является изучение морфофункционального состояния пла-цент после беременности, достигнутой методами ВРТ. Задачи исследования: провести гистологическое и иммуногистохимическое исследование с применением маркеров CD34, NOS-3 и HIF в данных плацентах. Методы. Всего было исследовано 98 плацент от одноплодной беременности при доношенном сроке гестации. Сформировано две группы исследования: основная группа -плаценты от беременности, индуцированной ме-тодами ВРТ (n = 60); группа была поделена на I подгруппу, куда вошли 30 плацент от женщин с первичным бесплодием, и II подгруппу -30 плацент от женщин с вторичным бесплодием. Группу сравнения составили плаценты от естественно наступившей беременности (12 плацент от первобеременных женщин и 26 плацент от повторнобеременных пациенток). Результаты. При гистологическом исследовании морфологической струк-туры плаценты было выявлено, что частота встречаемости хронической плацентарной недостаточности было в 1,4 раза выше в подгруппе с вторичным бесплодием. При иммуногистохимическом исследовании плацент в основной группе выявлено достоверное снижение экспрессии маркера клеточной адгезии (CD34) в эпителии сосудов ворсин хориона, снижение экспрессии маркера сосудистого тонуса (NOS-3) и повышение экспрессии гипоксия-индуцибельного фактора (HIF-1α) в основной группе по сравнению с плацентами от детей, рожденных естественным путем. Изменения в экспрессии изучаемых маркеров наиболее выражены в плацентах от детей, рожденных при вторичном бесплодии, что, вероятнее всего, связано с высокой частотой встречаемости воспали-тельных заболеваний органов малого таза в данной подгруппе. Выводы. Патология эндометрия при первичном и вторичном бесплодии может стать причиной нарушения формирования функциональной и морфологической структуры плацентарного комплекса и возникновения в дальнейшем плацентарной недостаточности.■ Ключевые слова: плацента; ворсинчатый хорион; гистологическое и иммуногистохимическое исследование; сосудистые изменения; вспомогательные репродуктивные технологии; хроническая плацентарная недостаточ-ность; СD34, NOS-3, HIF. ■ Introduction. Of special interest in the use of assisted reproductive technology techniques (ART) is the placenta as the main authority responsible for the formation and growth of the fetus. Purpose and objectives. The aim of our research is to study the morpho-functional state of placenta after pregnancy achieved by means of ART. Research objectives: histological and immunohistochemical study using the CD34, NOS-3 and HIF in these placentas. Methods. Total 98 placentas from full-term singleton pregnancies with gestational age were examined. Two study groups were formed: a basic group -the placenta from pregnancy induced methods of ART (n = 60) was divided into I subgroup, which included 30 placentas from women with primary inferti...

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Clustering of male infertility in the families of couples treated with intracytoplasmic sperm injection

Cited by 67 publications

References 30 publications

MECHANISMS IN ENDOCRINOLOGY: Aberrations of the X chromosome as cause of male infertility

MECHANISMS IN ENDOCRINOLOGY: Aberrations of the X chromosome as cause of male infertility

Causes of patients’ obstetric complications after ART

Functional morphology of the placental villous tree at term singleton pregnancies, achieved by methods of assisted reproductive technology

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