Turner syndrome: mosaic and isochromosome q in a young African woman
Mensah-Ado, I.; Lauhbouet, M.D.; Lokrou, A.; Ehouman, A.; Morlier, G.
Medecine Tropicale Revue du Corps de Sante Colonial 54(4): 349-351
1994
ISSN/ISBN: 0025-682X PMID: 7746129 Document Number: 430713
The authors describe the first case reported in Ivory Coast of an 18-year-old African girl for a small size and amenorrhea and failure to reach puberty. There was no dysmorphism. The uterus was infantile. X-ray examination of the skeleton revealed early osteoporosis and KOSOWICZ sign. Hormonal evaluation demonstrated hypertrophic hypogonadism. Diagnosis of TURNER's syndrome was confirmed by karyotype obtained by culture of peripheral blood and which was 46,Xi (Xq)/45,X, associating a mosaic and isochromosome q. Hormonal therapy induced menstruation and led to normal breast development. This case report confirms that these syndromes occur in Black Africa where diagnosis remains difficult due to the sophisticated facilities required.