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Open Access Case report

Hypogonadotropic hypogonadism presenting with arhinia: a case report

Jeanie B Tryggestad1*, Shibo Li2 and Steven D Chernausek1

Author Affiliations

1 Department of Pediatrics, Section of Diabetes and Endocrinology, 1200 Children’s Way, Suite 4500, Oklahoma City, OK 73104, USA

2 Department of Pediatrics, Section of Genetics, 1200 Children’s Way, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA

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Journal of Medical Case Reports 2013, 7:52  doi:10.1186/1752-1947-7-52

Published: 22 February 2013

Abstract

Introduction

Arhinia, congenital absence of the nose, is a rare malformation. We present the third reported case of arhinia accompanied by hypogonadism and demonstrate that this is due to gonadotropin deficiency.

Case presentation

A 13-year-old Caucasian boy with congenital arhinia presented for evaluation of delayed puberty and micropenis. We examined genes known to be associated with hypogonadotropic hypogonadism for mutations and performed a chromosomal microarray to assess copy number variation.

Conclusion

No mutations in KAL1, FGFR1, PROK2, PROKR2, FGF8, CHD7 and GnRHR were identified in our patient and there were no copy number variations observed that would explain the phenotype. Though studies are limited in such patients, we suggest that hypogonadotropic hypogonadism is associated with arhinia and that the two entities likely result from a common genetic cause that affects early nasal development and gonadotropin-releasing hormone neuron formation or migration.