[Callosogenital dysplasia].
A nosological entity, calloso-genital dysplasia, is described from a case of primary amenorrhoea with coloboma and total agenesis of the corpus callosum. Deficiency of the thalamic gonadotropic hormone secretion was elicited, together with normal or moderately elevated prolactinaemia, the significance of which is discussed. Thyrotropic, somatotropic and corticotropic functions were normal. It may be that the hypogonadotropic eunuchoidism of this 24-year old woman with normal olfaction evolved towards panhypopituitarism over a number of years, but in such a malformation that had not changed since birth the thalamic hypophysiotropic dysfunction seems to be fixed and stable. Unless a most unlikely coincidence occurred, the primary amenorrhoea seems to be related to the malformation. Agenesis of the corpus callosum with panhypopituitarism is well known, but this case is original in that the pituitary deficiency is very limited. A comparison with its mirror image, olfacto-genital dysplasia or Kallman's syndrome is tempting, but it remains to be documented anatomically by other cases.
Aubert
L
L
Hôpitaux de Toulon.
Aubert
L P
LP
Conte-Devolx
B
B
D000015:Abnormalities, Multiple; D000328:Adult; D061085:Agenesis of Corpus Callosum; D000568:Amenorrhea / Q000209:etiology*; D003103:Coloboma / Q000150:complications*; D005260:Female; D006801:Humans; D010908:Pituitary Hormones, Anterior / Q000097:blood; D011680:Pupil / Q000002:abnormalities
D010908:Pituitary Hormones, Anterior
Dysplasie calloso-génitale.