[Congenital lipoid hyperplasia of the adrenal gland and male pseudohermaphroditism: clinical aspects of two siblings].
Two siblings of consanguinous parents, one male and one female, presented with symptoms of adrenal insufficiency related to respiratory infection at the age of two and three months, respectively. Besides a reduction of the synthesis of gluco- and mineralocorticoids, the sexual hormones were found to be reduced as well. Therefore, the boy showed a female sexual phenotype (male pseudohermaphroditism). Additionally, minor malformations including epicanthal folds, anti-mongoloid palpebral fissures, low-set ears were noticed, which have not been reported in children with the suspected diagnosis previously. The female sibling had typical Addison's crisis twice during the following years. Endocrinological tests yielded evidence for Cholesterol-20,22-desmolase deficiency.
Gessler
P
P
Univ. Kinderklinik Mannheim.
Hahn
C
C
Hild
G
G
Heinrich
U
U
D000304:Adrenal Cortex Function Tests; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis / Q000235:genetics*; D000309:Adrenal Insufficiency / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002786:Cholesterol Side-Chain Cleavage Enzyme / Q000172:deficiency* / Q000235:genetics; D003241:Consanguinity; D012734:Disorders of Sex Development / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D010375:Pedigree
D002786:Cholesterol Side-Chain Cleavage Enzyme
Kongenitale lipoide Hyperplasie der Nebenniere und Pseudohermaphroditismus masculinus: Klinik zweier Geschwister.