46,XX gonadal dysgenesis, short stature, and recurrent metabolic acidosis in two sisters.
Gonadal (ovarian) dysgenesis in 46,XX individuals is genetically heterogeneous. We report on two sisters who, in addition to primary ovarian failure, have marked short stature and recurrent episodes of dehydration with metabolic acidosis. Studies performed during one of these episodes suggested mitochondrial dysfunction; however, results of biochemical analysis of electron transport chain activity in skeletal muscle and mitochondrial DNA studies were normal. We discuss the phenotype in relation to previously described conditions of 46,XX gonadal dysgenesis. We suggest this constellation of findings represents a new syndrome.
Hisama
F M
FM
Department of Neurology, Yale University School of Medicine, New Haven, CT 06510, USA.
Zemel
S
S
Cherniske
E M
EM
Vladutiu
G D
GD
Pober
B R
BR
D000138:Acidosis / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D000293:Adolescent; D001824:Body Constitution; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D006059:Gonadal Dysgenesis / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D006130:Growth Disorders / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007986:Luteinizing Hormone / Q000097:blood; D010641:Phenotype; D016649:Primary Ovarian Insufficiency / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D014960:X Chromosome
D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone