Anosmia Predicts Hypogonadotropic Hypogonadism in CHARGE Syndrome - 20/08/11
Reprint requests: C.M.A. van Ravenswaaij-Arts, MD, PhD, Department of Genetics, University Medical Center Groningen, PO Box 30.001, 9700 RB Groningen, the Netherlands.Abstract |
Objective |
To test the hypothesis that a smell test could predict the occurrence of hypogonadotropic hypogonadism (HH) in patients with CHARGE syndrome, which is a variable combination of ocular coloboma, heart defects, choanal atresia, retardation of growth/development, genital hypoplasia, and ear anomalies or hearing loss caused by mutations in the CHD7 (chromodomain helicase DNA binding protein 7) gene.
Study design |
We performed endocrine studies and smell testing (University of Pennsylvania Smell Identification Test) in 35 adolescent patients with molecularly confirmed CHARGE syndrome.
Results |
Complete data on smell and puberty were available for 15 patients; 11 patients had both anosmia and HH, whereas 4 patients had normosmia/hyposmia and spontaneous puberty. In addition, 7 boys were highly suspected of having HH (they were too young for definite HH diagnosis, but all had cryptorchidism, micropenis, or both) and had anosmia. The type of CHD7 mutation could not predict HH because a father and daughter with the same CHD7 mutation were discordant for HH and anosmia.
Conclusion |
Anosmia and HH were highly correlated in our cohort, and therefore smell testing seems to be an attractive method for predicting the occurrence of HH in patients with CHARGE syndrome. The use of this test could prevent delay of hormonal pubertal induction, resulting in an age-appropriate puberty.
Le texte complet de cet article est disponible en PDF.Mots-clés : CHARGE, CHD7, FSH, GnRH, HH, HRT, LH, MLPA, MRI, SPL, UPSIT
Plan
| Funded by the Netherlands Organization for Health Research (grant 92003460). The authors declare no conflicts of interest. |
Vol 158 - N° 3
P. 474-479 - mars 2011 Retour au numéro
Article précédent
- Childhood Onset Inflammatory Bowel Disease: Predictors of Delayed Diagnosis from the CEDATA German-Language Pediatric Inflammatory Bowel Disease Registry
- Antje Timmer, Rolf Behrens, Stephan Buderus, Annette Findeisen, Almuthe Hauer, Klaus-Michael Keller, Guido Kliemann, Thomas Lang, Wolfgang Lohr, Peter Rzehak, Sibylle Koletzko, CEDATA-GPGE Study Group ∗
- Efficacy of Succimer Chelation of Mercury at Background Exposures in Toddlers: A Randomized Trial
- Yang Cao, Aimin Chen, Robert L. Jones, Jerilynn Radcliffe, Kim N. Dietrich, Kathleen L. Caldwell, Shyamal Peddada, Walter J. Rogan
Bienvenue sur EM-consulte, la référence des professionnels de santé.
L’accès au texte intégral de cet article nécessite un abonnement.
Déjà abonné à cette revue ?