Features of Turner syndrome among a group of Cameroonian patients.
OBJECTIVE
To describe the features of Turner syndrome among a group of Cameroonian patients.


METHODS
A descriptive cross-sectional study was conducted among patients with amenorrhea and/or short stature who attended the genetic unit of Yaoundé Gynecology, Obstetrics and Pediatric Hospital (Yaoundé, Cameroon) for a specialist consultation between July 1, 2007, and December 31, 2008. Sociodemographic, clinical, and cytogenetic data were collected.


RESULTS
Turner syndrome was confirmed among 11 of the 14 participants (seven had monosomy of the X chromosome; four had mosaicism involving a structural abnormality of the second X chromosome). The mean age at diagnosis was 18.4±2.8years. The reasons for consultation were delayed puberty (n=10) and short stature (n=1). Nine patients had a short neck, nine had a forearm carrying-angle deformity, eight had a low hairline, and two had a webbed neck. Abdominal ultrasonography identified a horseshoe kidney in two patients and a rudimentary uterus in nine patients. None of the patients displayed cardiac abnormalities. Hypergonadotropic hypogonadism was reported among five patients. Eight patients did not receive hormonal treatment owing to advanced bone age or economic reasons.


CONCLUSIONS
Late diagnosis and variable phenotypic expression were key features of Cameroonian patients with Turner syndrome.
Department of Clinical Laboratory Sciences, Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa. Electronic address: ambroise.wonkam@uct.ac.za.
Ambroise
A
Wonkam
Faculty of Medicine and Biomedical Sciences, University of Yaoundé I, Yaoundé, Cameroon.
Sandra W
SW
Veigne
Faculty of Medicine and Biomedical Sciences, University of Yaoundé I, Yaoundé, Cameroon.
Ali
A
Abass
Faculty of Medicine and Biomedical Sciences, University of Yaoundé I, Yaoundé, Cameroon.
Suzanne
S
Ngo Um
Faculty of Medicine and Biomedical Sciences, University of Yaoundé I, Yaoundé, Cameroon.
Jean Jacques N
JJ
Noubiap
Faculty of Medicine and Biomedical Sciences, University of Yaoundé I, Yaoundé, Cameroon.
Jean-Claude
JC
Mbanya
Faculty of Medicine and Biomedical Sciences, University of Yaoundé I, Yaoundé, Cameroon.
Eugene
E
Sobngwi
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D001827:Body Height; D002163:Cameroon; D002648:Child; D041321:Chromosomes, Human, X; D003430:Cross-Sectional Studies; D057210:Delayed Diagnosis; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000235:genetics; D059785:Karyotype; D007668:Kidney / Q000002:abnormalities; D009030:Mosaicism; D010641:Phenotype; D011628:Puberty, Delayed / Q000235:genetics; D014424:Turner Syndrome / Q000175:diagnosis* / Q000235:genetics; D014599:Uterus / Q000002:abnormalities; D055815:Young Adult
Age at diagnosis; Cameroon; Phenotypic expression; Turner syndrome