A novel single base deletion at codon 434 (1301delT) of the DAX1 gene associated with prepubertal testis enlargement.
We have identified a novel DAX1 frameshift mutation (1301delT) at codon 434 in a patient with primary adrenal insufficiency. This 11-day-old boy was admitted to the hospital with hyponatremia, hyperkalemia, and suspected congenital adrenal abnormality. He exhibited severe hypoglycemia, pallor of the skin, buccal and genital hyperpigmentation, hypotension (90/45 mm Hg), anemia, and diarrhea. Although basal gonadotropins were low, and responded minimally to exogenous GnRH, the size of his testes began to increase at age 4 and reached 4.5 mL at the age of 9 years and 8 months. Testosterone levels were prepubertal. These findings further emphasize the variable clinical presentation in children with DAX1 gene mutations and indicate the value of genetic testing in boys with primary adrenal insufficiency.
Argente
Jesús
J
Department of Pediatrics, Autonomous University Medical School, Hospital Universitario Infantil Niño Jesús, Avda. Menéndez Pelayo, 65, E-28009, Madrid, Spain. argentefen@terra.es
Ozisik
Gokhan
G
Pozo
Jesús
J
Teresa Muñoz
M
M
Soriano-Guillén
Leandro
L
Larry Jameson
J
J
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D000312:Adrenal Hyperplasia, Congenital / Q000473:pathology; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D003062:Codon / Q000235:genetics*; D057137:DAX-1 Orphan Nuclear Receptor; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005500:Follow-Up Studies; D006801:Humans; D006947:Hyperkalemia / Q000473:pathology; D007010:Hyponatremia / Q000473:pathology; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D018168:Receptors, Retinoic Acid / Q000235:genetics*; D012097:Repressor Proteins; D017384:Sequence Deletion; D013737:Testis / Q000002:abnormalities*; D014157:Transcription Factors / Q000235:genetics*
D003062:Codon; D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins; C539965:NR0B1 protein, human; D018168:Receptors, Retinoic Acid; D012097:Repressor Proteins; D014157:Transcription Factors; D004247:DNA