XY gonadal dysgenesis with female phenotype (author's transpl)]

In this paper, we are dealing with the study of a case of multiple somatic malformations, with external female genitals and 46 XY caryotype. The anatomical and histological study of the genital organs, allows us to verify the existence of internal genital organs; consisting essentially in tubes, bicornous uterus, a gonadal ligament in a normotopical position, Wolffian remains and the absence of a vagina. The external female genitals are completely normal. When we interpreted these findings, we paid special attention to the relation existing between the abnormal presence of the Wolffian remains, male genotype, and typical female genital structures. Taking account of the latest scientific advances concerning genital development, we considered the possibility of the existence of secretions of a masculinizing substance from the gonad, before its morphological differentiation, which was interrupted by an etiological undetermined noxa. When this evolution was arrested, together with the secretions of the masculinizing substance, the genital development continued normally for a female. The terminal teratogenic period for this malformation is situated from the 5th to the 6th week of gestation (human embryos from 11 to 14 mm., Streeter Horizon XVII).     

A case of atypical galactosemia(author's transl)]

The case of a male infant suffering from clinical manifest galactosemia in connexion with a disease of only about 70% in uridyltransferase activity is characterized as atypical galactosemia. As compared with the described "Indiana variant" of a galactosemic female infant showing an unstable uridyltransferase activity this case demonstrates an unchanged enzyme activity still after 72 hrs. The metabolic disease of this patient clearly demonstrated that the lack of a typical pronounced reduction of enzyme activity maybe not the leading criterion for excluding the clinical diagnosis of galactosemia. In the present case only the consistent galactose-free diet lead to the decisive improvement of the clinical picture. The investigation of the family revealed the typical pattern of an autosomal recessive mode of heredity.