Phenotypic Features of Patients With Congenital Adrenal Hypoplasia and Glycerol Kinase Deficiency
- 1 July 1987
- journal article
- research article
- Published by American Medical Association (AMA) in Archives of Pediatrics & Adolescent Medicine
- Vol. 141 (7) , 744-747
- https://doi.org/10.1001/archpedi.1987.04460070046020
Abstract
• Two unrelated boys with congenital adrenal hypoplasia and glycerol kinase deficiency were found to have similar features, including characteristic fades, testicular abnormalities, short stature, psychomotor retardation, and muscular dystrophy. The resemblance of these boys to other patients described in the literature suggests that a distinct phenotypic syndrome occurs in children with congenital adrenal hypoplasia and glycerol kinase deficiency. (AJDC 1987;141:744-747)This publication has 13 references indexed in Scilit:
- Glycerol Kinase Deficiency: Compartmental Considerations Regarding Pathogenesis and Clinical HeterogeneityPublished by Springer Nature ,1986
- Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibsClinical Genetics, 1983
- CONCORDANCE OF X-LINKED GLYCEROL KINASE DEFICIENCY WITH X-LINKED CONGENITAL ADRENAL HYPOPLASIAThe Lancet, 1982
- ‘Pseudohypertriglyceridemia’ caused by hyperglycerolemia due to congenital enzyme deficiencyClinica Chimica Acta; International Journal of Clinical Chemistry, 1982
- Familial cytomegalic adrenocortical hypoplasia: an X-linked syndrome of pubertal failure.Archives of Disease in Childhood, 1981
- Gonadotropin deficiency and cryptorchidism in three prepubertal brothers with congenital adrenal hypoplasiaThe Journal of Pediatrics, 1980
- CONGENITAL X-LINKED ADRENAL HYPOPLASIA1978
- Familial hyperglycerolemia.Journal of Clinical Investigation, 1978
- Familial congenital adrenal hypoplasia.Archives of Disease in Childhood, 1968
- Hypoplasia of the pituitary and adrenal cortex: Report of occurrence in twin sibling and autopsy findingsThe Journal of Pediatrics, 1956