CONGENITAL ANOMALIES ASSOCIATED WITH GONADAL APLASIA

Abstract

The congenital anomalies associated with the syndrome of gonadal aplasia were reviewed in 55 cases. All patients in this group were short in stature. Almost half of the group had webbed neck, 13 of whom were of the Bonnevie-Ullrich type. Seven of the latter, however, changed into the Turner's type of neck in early childhood. Edema of the extremities, aortic coarctation and cutis laxa seemed to be associated with the group of neck webbing. Other somatic anomalies, on the other hand, especially shield-like chest, cubitus valgus and abnormal facies and nails, occurred with almost equal incidence among the two groups: those with and those without webbed neck. All patients with webbed neck tested for chromosomal sex showed a male pattern, whereas, of 11 patients with normal necks whose chromatin pattern was studied, 4 had female patterns. A high incidence of bone rarefaction ("osteoporosis") of unexplained nature, moderate hypertension of unknown etiology and multiple intestinal telangiectases was noticed. Several other anomalies, mostly of mesodermal origin, were found to be of a higher incidence in this group than the general population. The embryogenesis and the pathogenesis of this syndrome are discussed. Diagnosis and treatment are briefly mentioned.