Gender Identity Disorders and Bipolar Disorder Associated With the Ring Y Chromosome

“Mr. G” was a 31-year-old, single, bank manager who was first referred in May 2000 for depressive symptoms and suicidal thoughts precipitated by the accidental death of his sister and the failure of a heterosexual relationship. His personal history was marked by delayed language acquisition and virtually no social or familial interactions during his school years and after, except for a symbiotic relationship with his sister. His limited social abilities contrasted with his remarkable skills in mathematics and an early inclination for electronics. During the interview, Mr. G revealed his desire since childhood to be a woman, and he asked for a sex change operation. Gender identity disorder was diagnosed. After a few months, Mr G experienced a hypomanic episode with mood lability and began wearing eccentric women’s clothing in public and insisted on receiving female sex steroid hormones and sex change surgery.

At admission, the patient met criteria for bipolar II disorder. His physical examination did not reveal any abnormality: his genitalia were normal, and he did not have gynecomastia. A biological examination revealed a disturbed hormonal profile with an elevated follicle stimulating hormone level; a normal testosterone level; and an abnormal karyotype with a mosaicism (45, X[2]/ 46, X, r(Y)[23]), which showed one cell line presenting the ring Y chromosome. This chromosomal formula provided to the patient an argument to claim his sex change. During a 6-year follow-up, the patient was admitted eight times and developed impulsive behavior such as suicidal and self-injurious attempts. A broad range of antidepressants, mood stabilizers, and antipsychotic treatments were unsuccessful until clozapine (75 mg daily) and lithium carbonate (1000 mg daily) permitted a sustained remission. Subsequently, the patient relinquished his demands for a sex change.