Document Detail

A case of Kallmann syndrome.
MedLine Citation:
PMID:  22700069     Owner:  NLM     Status:  In-Data-Review    
Kallmann syndrome (KS), a rare genetic disorder, refers to the association between hypogonadotropic hypogonadism and anosmia or hyposmia due to abnormal migration of olfactory axons and gonadotropin-releasing hormone producing neurons. The authors report a case of a 26-year-old Filipino male who presented with eunuchoid body proportion, absence of facial and axillary hair and sparse pubic hair, micropenis and bilaterally descended prepubertal testes. Associated findings were hyposmia, high pitched voice, absence of puncta and smooth philtrum. Hormonal assay showed hypogonadotropic hypogonadism. He has normal male karyotype. Ultrasonography revealed no renal abnormalities. MRI of the brain showed hypoplastic left olfactory bulb and aplastic right olfactory bulb. These findings are characteristic of KS. Androgen replacement with testosterone was started to induce virilisation. Our patient is now on regular follow-up to monitor response to treatment.
Maria Luisa Cecilia R Arkoncel; Francis Raymond P Arkoncel; Frances Lina Lantion-Ang
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Publication Detail:
Type:  Journal Article     Date:  2011-03-25
Journal Detail:
Title:  BMJ case reports     Volume:  2011     ISSN:  1757-790X     ISO Abbreviation:  BMJ Case Rep     Publication Date:  2011  
Date Detail:
Created Date:  2012-06-15     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101526291     Medline TA:  BMJ Case Rep     Country:  England    
Other Details:
Languages:  eng     Pagination:  -     Citation Subset:  IM    
Section of Endocrinology, Diabetes and Metabolism, Department of Medicine, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines.
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