The meiotic nuclear lamina regulates chromosome dynamics and promotes efficient homologous recombination in the mouse.

The nuclear lamina is the structural scaffold of the nuclear envelope and is well known for its central role in nuclear organization and maintaining nuclear stability and shape. In the past, a number of severe human disorders have been identified to be associated with mutations in lamins. Extensive research on this topic has provided novel important clues about nuclear lamina function. These studies have contributed to the knowledge that the lamina constitutes a complex multifunctional platform combining both structural and regulatory functions. Here, we report that, in addition to the previously demonstrated significance for somatic cell differentiation and maintenance, the nuclear lamina is also an essential determinant for germ cell development. Both male and female mice lacking the short meiosis-specific A-type lamin C2 have a severely defective meiosis, which at least in the male results in infertility. Detailed analysis revealed that lamin C2 is required for telomere-driven dynamic repositioning of meiotic chromosomes. Loss of lamin C2 affects precise synapsis of the homologs and interferes with meiotic double-strand break repair. Taken together, our data explain how the nuclear lamina contributes to meiotic chromosome behaviour and accurate genome haploidization on a mechanistic level.

[A neglected source text on the history of adrenogenital syndrome. Jean-Baptiste Bouillaud's classification of Valmont's hermaphroditism]. / Ein vernachlässigter Quellentext zur Geschichte des adrenogenitalen Syndroms. Jean-Baptiste Bouillauds Klassifizierung des Hermaphrodisme Valmontien (1833).

In the early history of the discovery of the adrenogenital syndrome one occasionally comes across case histories that can only be connected with this endocrinological disease because of clinical criteria. In these cases, it it impossible to prove the diagnosis because the adrenal glands and their pathological changes, which constitute the basis of this disease, are not mentioned. One of these uncertain cases claimed to testify to an early knowledge of the adrenogenital syndrome is a hermaphrodite described by the French clinican Bouillaud in 1833. The subject presented as a male whose genitalia were unremarkable, apart from slight hypospadia and an empty scrotum. On dissection, the pelvis was found to contain a uterus, tubes, ovaries and--a prostate. In spite of the absence of male gonads, i.e. tissue producing androgens, the phenotype was male. In the usual classification of hermaphroditism, this is female pseudohermaphroditism, and we must ask ourselves wether this was an instance of the adrenogenital syndrome, i.e. virilisation of a female caused by androgens. Because the adrenal glands are not mentioned, direct proof is impossible. A close reading of the report and the plates showed, that a definitive diagnosis could be arrived at even without an examination of the adrenal glands: Abnormal androsteroids (which are causative for this pathology) produced by the adrenal glands during the develoment of the female embryo cause the development of a 'prostate', which has its origin in the paraurethral glands, the homologue of the male portion of the bisexually preformed prostate. The characteristic position of this organ normally absent in the female in relation to other parts of the female genitourinary tract, which is only present in the adrenogenital syndrome and is documented in one of Bouillaud's plates, dispells any doubts about the diagnosis and allows us to add another case to the small number of certain instances during the early history of the discovery of this rare pathology.

[Forgotten evidence of adrenogenital syndrome]. / Ein vergessenes Zeugnis des adrenogenitalen Syndroms.

At present, the adrenogenital syndrome must surely be reckoned among the most widely known conditions in endocrine pathology. It may come as a surprise that no unambiguous cases of adrenogenitalism are on record before the end of the 19th century. While granting that impressive clinical descriptions may be found in isolated instances, postmortem findings are either totally missing or were not recorded in sufficient detail, thus greatly diminishing their value for retrospective study. This, however, does not apply to a case published by Luigi de Crecchio, a Naples anatomist, in 1865, of a female pseudo-hermaphrodite. De Crecchio provides, for the first time ever, a clear description of a rare pathology, underpinned by an exemplary postmortem examination, detailed clinical findings, and biographical data. Based on a complete translation of De Crecchio's article, our study comments on this almost forgotten case history, placing it, at the same time, in the context of the history of endocrine research.