The gonads or excisions there of obtained from 13 cases of early primary ovarian failure in 46,XX females subjected to explorative laparotomy have been examined microscopically, histochemically and biochemically. Clinically, the cases were characterized by either primary amenorrhoea or by one or several spontaneous menstruations followed by amenorrhoea until operation. Roentgenologically and macroscopically, the gonads were characterized as either "steak" gonads or hypoplastic ovaries. There were no associated somatic anomalies except for slight dysplastic bone changes and/or osteoporosis. Based on morphological findings, the gonads were grouped as follows. Type A ("dysgenetic" or "aplastic") gonads characterized by a complete absence of follicular apparatus or its remnants were composed of ovarian cortical-like stroma. Some of them contained hilus cells and rete structures. Type B gonads were severely hypoplastic ovaries differing from the previous ones by the presence of various active, but predominantly inactive derivatives of the follicular apparatus, such as scarce primordial or growing follicles, corpora albicantia or atretica. Type C gonads were designated as hypoplastic sclerocystic ovaries showing a microscopical pattern similar to that of the "Stein-Leventhal ovaries", with follicles, follicular cysts and predominantly perifollicular hyperthecosis. Biochemical investigations were based on incubation studies with labelled precursors. They permitted to conclude that steroid biosynthesis was severely affected in all the gonads examined, differing most markedly from the ordinary ovarian steroid biosynthesis in the A-type gonads, and being rather similar to that observed in the "Stein-Leventhal ovaries" in the C-type ones.

Adolescent↗

PubMed1975

Two cases of C-group balanced translocations.

The present study describes 2 cases of a balanced reciprocal translocation in the C-group of autosomes. Familial translocation 46,XX,t(6;7) was found both in a woman cytogenetically examined because of a developmental anomaly of the internal genitals (uterus bicornis subseptus) and in her healthy mother. Chromosomal complement 46,XYt(8;10) was proved in the healthy father of a child showing clinical features of Down's syndrome with a karyotype 47,XY,21+. Q- and G-banding techniques were used for precise identification of the chromosomes involved in translocations.

Adult↗

PubMedDate not supplied

Cytodiagnostic study of women with primary amenorrhoea and karyotype 46XX.

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Adolescent↗