The Mayer-Rokitansky-Küster-Hauser syndrome (congenital absence of uterus and vagina) – phenotypic manifestations and genetic approaches

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome affects at least 1 out of 4500 women and has for a long time been considered as a sporadic anomaly. Congenital absence of upper vagina and uterus is the prime feature of the disease which, in addition, is often found associated with unilateral renal agenesis or adysplasia as well as skeletal malformations (MURCS association). The phenotypic manifestations of MRKH overlap various other syndromes or associations and thus require accurate delineation. Since MRKH manifests itself in males, the term GRES syndrome (Genital, Renal, Ear, Skeletal) might be more appropriate when applied to both sexes. The MRKH syndrome, when described in familial aggregates, seems to be transmitted as an autosomal dominant trait with an incomplete degree of penetrance and variable expressivity. This suggests the involvement of either mutations in a major developmental gene or a limited chromosomal deletion. Until recently progress in understanding the genetics of MRKH syndrome has been slow, however, now HOX genes have been shown to play key roles in body patterning and organogenesis, and in particular during genital tract development. Expression and/or function defects of one or several HOX genes may account for this syndrome

ETUDE DE LA FONCTION PROLACTINIQUE DANS 14 CAS DE GALACTORRHéE AVEC HYPOGONADISME ET MICRO-DéFORMATION DE LA SELLE TURCIQUE

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La prolactinémie chez les myxœdémateuses

PRL and TSH were measured by radioimmunoassay in 14 persons with myxedema aged 16 to 65 yr. 3 of them had galactorrhea. In 13 patients the circadian rhythm of PRL was studied, and in 8 patients PRL was measured after TRH administration. All the patients had a high value of serum TSH, with a mean value ± SEM of 29.4 (24.3 - 35.6) mU/ml. Values of serum PRL were comprised in normal ranges with a mean value ± SEM of 126 (196 - 238) mU/ml. The circadian rhythm of PRL is not altered, since mean values of serum PRL are more elevated at 4 am than 8 am with highly statistical significance. After THR administration the PRL response is normal or exaggerated. The results suggest that TSH release is quite independent of PRL release in hypothyroidism. Three hypothyroid patients with galactorrhea had a normal serum PRL value. This suggests that galactorrhea is a consequence of an altered activity of the 'lactogenic complex' comprising especially TSH and thyroid hormones.info:eu-repo/semantics/publishe