Etiological evaluation of patients with micropenis prensented to a tertiary health care center objective

Etiological Evaluation of Patients with Micropenis Prensented to a Tertiary Health Care CenterObjective: The objective of this study was etiological evaluation and classification of the patients presented to a tertiary health care center with micropenis in one whole year; and molecular genetic analysis of the patients with suspected hypogonadotropic hypogonadism.Materials and Methods: The study forms were filled for the cases admitted or referred to a tertiary health care center with micropenis between October 2009 ? October 2010. After obtaining detailed patient history and performing physical examination, stretched penile length were measured. Each patient was evaluated individually and laboratory tests were used as needed to achieve a spesific diagnosis. Molecular genetic analysis was performed for cases with suspected hypogonadotropic hypogonadism.Results: Presence of micropenis was confirmed in 45 of total 65 cases (69%). Stretched penile lengths for 20 (31%) patients were incompatible with micropenis by definition. Patients in this study were evaluated in three main groups. These groups; Group 1: Patients with no true micropenis (20 cases, 31%), Group 2: Patients with micropenis for which the etiology was found (29 cases, 44%), Group 3: Patients with micropenis for which etiology could not be found (16 cases, 25%). In the second group molecular genetic analysis were performed for 14 patients with suspected hypogonadotropic hypogonadism. In one case a novel mutation of T177K was found in the TACR3 gene.Conclusion: Approximately one third of the patients who are examined for micropenis do not meet the criteria for micropenis. Buried penis due to obesity, inaccurate penile length measurement, and/or lack of knowledge for the population standards for penile length are the most common causes for misdiagnosis. Etiology of true micropenis is very heterogenous and can not be found in quarter of patients despite a battery of investigations performed. Accurate measurement and using internationally accepted standards for stretched penile length are important for timely diagnosis and management of cases with micropenis.Keywords: Micropenis, hypogonadotrophic hypogonadism, obesity, chromosome anomaly, mutation