46, XY agonadism associated with adrenal adenoma/myelolipoma: report of a case analyzing Y-chromosome-specific sequences.
A unique patient with 46, XY agonadism associated with adrenal adenoma/myelolipoma is described. The patient was an 18-year-old female with primary amenorrhea, lack of secondary sexual development and an aldosterone-producing adrenocortical adenoma associated with foci of myelolipoma. Molecular analyses of Y-chromosome-specific regions, including automated sequencing of the entire coding region of SRY, the Y-linked testis-determining gene, were performed. Our results excluded the possibility that a mutation in SRY was responsible for this unusual clinical combination.
Carranza-Lira
S
S
Department of Gynecological Endocrinology, Hospital of Gynecology and Obstetrics Luis Castelazo Ayala, IMSS, México, D.F. México.
Jiménez
A Luisa
AL
Quiroz
E
E
Kofman-Alfaro
S
S
Zenteno
J C
JC
D000293:Adolescent; D000306:Adrenal Cortex Neoplasms / Q000150:complications / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000601:surgery; D018246:Adrenocortical Adenoma / Q000150:complications / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000601:surgery; D001483:Base Sequence; D041322:Chromosomes, Human, Y; D003937:Diagnosis, Differential; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D008969:Molecular Sequence Data; D011859:Radiography; D012732:Sex Determination Analysis