title: A young male adolescent with feminine appearance: diagnosis of 46, XX syndrome neglected for 4 years with gynaecomastia presentation.
abstract: Gynaecomastia is common in infancy and adolescent boys, but other inciting causes should be kept in mind and necessitate further evaluation should be conducted to determine any underlying conditions. A 22-year-old unmarried male adolescent visited our endocrinology clinic for feminine appearance despite operations for bilateral gynaecomastia 4 years ago. Physical examination showed inverted triangular distribution of pubic hair, sparse beard, small-sized testes, flaccid short penis and surgical scar of the chest wall. Serum hormones study revealed primary hypergonadotropic hypogonadism, and cytogenetic study disclosed female complement (46, XX). The authors recommend that sexual chromosome abnormality should be considered in patients with hypogonadism to avert androgen deficiency-related complications early and that long-term team care should be provided to improve the patient's health-related quality of life.
authors.affiliation: Division of Endocrinology and Metabolism, Department of Internal Medicine, Taichung Veterans General Hospital, Taichung, Taiwan.
authors.forename: C-P
authors.initials: CP
authors.lastname: Fu
authors.forename: W H-H
authors.initials: WH
authors.lastname: Sheu
authors.forename: J-J
authors.initials: JJ
authors.lastname: Tseng
authors.forename: S-Y
authors.initials: SY
authors.lastname: Lin
mesh_terms: D058531:46, XX Testicular Disorders of Sex Development / Q000175:diagnosis* / Q000235:genetics; D000293:Adolescent; D020732:Cytogenetic Analysis; D057210:Delayed Diagnosis; D005260:Female; D006177:Gynecomastia / Q000209:etiology / Q000235:genetics*; D006801:Humans; D007006:Hypogonadism / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D010641:Phenotype; D055815:Young Adult
keywords: 46, XX male syndrome; Gynaecomastia; Klinefelter syndrome