M. Guschmann

Chorioangioma--new insights into a well-known problem. I. Results of a clinical and morphological study of 136 cases.

Abstract Aims. Chorangiomas are rare hamartomatous lesions. Possible correlations between their occurrence and the progression of a pregnancy have been objects of discussions for quite some time. Methods. In a retrospective study 22439 unselected placentas were examined for incidences of chorioangiomas, morphological features and accompanying clinical characteristics. Results. Chorangiomas occur in 0,61% of pregnancies, they are mainly microscopically small, and 55% of them are localized subchorial. The rate of their occurrence rises almost linearly with maternal age; chorangiomas are found most often in women who are over 30 years old. Hypertension and diabetes are found more often in combination with chorangiomas than they are in otherwise normal pregnancies. In 72% of all cases girls were born; in 33% we also observed malfunctions in the maturation processes of the placental parenchyma, in particular arrested and delayed maturation of the villi. Premature births occur approximately three times more often in chorioangioma pregnancies than in normal ones. Chorangiomas are often found in primipara and twin pregnancies.

Ellis-van Creveld syndrome: examination at 15 weeks' gestation.

In 1940, Ellis and van Creveld defined a syndrome they referred to as chondro‐ectodermal dysplasia. This autosomal recessive condition, now usually referred to as Ellis–van Creveld syndrome (EVC), comprises bilateral postaxial polydactyly, a chondrodysplasia, characterized by shortness of limbs, and ectodermal dysplasia. Congenital heart defects are also common. There are many reports in medical literature describing affected newborns and even, older children. Here, we report the clinical, radiological and histological findings in a 15‐week‐old affected fetus. The diagnosis of Ellis–van Creveld syndrome in this fetus is based on a positive family history (an affected sib) and shortness of long bones as well as hexadactyly diagnosed by prenatal ultrasonography.

Östrogenrezeptoren in der männlichen Genitalhaut

ZusammenfassungHintergrund: Als Therapie der Wahl bei der Phimose wurde bislang die Zirkumzision angesehen. Diskutiert wird aber auch, ob die Phimose nicht, analog der Labiensynechie bei Mädchen, lokal mit östrogenhaltiger Salbe zu behandeln ist. Voraussetzung wären Östrogenrezeptoren in der männlichen Genitalhaut. Methode: Wir untersuchten 91 Präputialhäute und Kontrollproben auf das Vorhandensein von Östrogenrezeptoren. Die Zählung der Rezeptoren wurden semiquantitativ, nach immunhistochemischer Färbung am Mikroskop, durchgeführt. Ergebnisse: Wir fanden in der Epidermis eine hohe Ausstattung der Zellen mit Östrogenrezeptoren (ER-α). Rezeptoren konnten auch in Fällen mit chronischer Entzündung und bereits geringer Narbenbildung nachgewiesen werden. Die Menge an Hormonrezeptoren entsprach denen der Genitalhaut einer erwachsenen Frau. Schlußfolgerung: Das Ergebnis unserer Studie stützt die bislang nur anhand klinischer Versuchsreihen angestellte Vermutung einer möglichen therapeutischen Beeinflussung der Phimose durch die Behandlung mit östrogenhaltigen Salbenpräparaten.SummaryBackground: The therapy of phimosis is circumcision. Since many years it has been discussed, whether phimosis is treatable with local estrogen application analogous to the treatment of labial synechia in girls. This conservative treatment depends on the presence of estrogen receptors (er-alpha) in male prepuce-cells. Methods: We analysed 91 foreskins for estrogen receptors in prepue cells. The analysis using a mikroskope was semiquatitative after immunhistochemistry staining of the material. Results: The biopsy material showed a high rate of cells with estrogen receptors in the epidermis, even when there was acute or chronic inflammation or a low-grade fibrosis of the tissue. The amount of hormone receptors equalled that in the genital skin of adult women. Conclusion: The result of our study supports the clinical assumption that local estrogen application may be therapeutically efficient in conservative phimosis treatment.

Früher neonataler Tod bei Drash-Syndrom

ZusammenfassungBerichtet wird über ein phänotypisch weibliches Neugeborenes der 37. SSW, welches unter dem Bild einer Niereninsuffizienz am 14. Lebenstag verstarb. Das Kind zeigte einen normalen männlichen Chromosomensatz von 46 XY und eine ungewöhnlich stark ausgeprägte, diffuse Mesangiosklerose mit interstitieller Nephritis. Molekulargenetische Untersuchungen sicherten die Diagnose eines Drash-Syndroms. Diskussion: Das Drash-Syndrom ist ein seltenes sporadisch auftretendes Krankheitsbild mit Glomerulopathie, urogenitalen Fehlbildungen und Wilms-Tumor-Risiko. Die Glomerulopathie ist das klinische Leitsymptom. In der Regel entwickelt sich binnen des 1. Lebensjahrs eine Niereninsuffizienz.SummaryA female phenotype newborn of a 37-week gestation developed renal failure and died after 14 days. The infant with a normal male chromosome set 46 XY showed a moderate diffuse mesangial sclerosis with interstitial nephritis. The molecular genetic examination secured the diagnosis of Drash-syndrome. Discussion: The Drash-syndrome is a rare sporadic disease comprising glomerular disease, urogenital malformation and risk of wilms-tumor. The glomerular disease is the cardinal symptom. As a rule renal failure develops within the first year of life.