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Transverse testicular ectopia with abnormal karyotype - a case report.

Harasymczuk J, Kaminiarczyk-Pyzalka D, Krawczynski M, Niedziela M, Wasko R, Czarnywojtek A, Jankowski A.
Case Reports 2011; 32(4): 408-410 PubMed PMID: 21876487 Citation  Keywords:  Child, Choristoma:genetics, Chromosome Aberrations, Chromosomes, Human, Y, Cryptorchidism:genetics, Hernia, Inguinal:genetics, Humans, Hypospadias:genetics, Male, Mosaicism, Sex Chromosome Aberrations,.   

OBJECTIVES: Growth disturbances and developmental malformations of external genitalia, such as hypospadias, bifid scrotum and micropenis, coexisting with non-palpable testes, may develop as a result of primary endocrinological dysfunctions as well as an effect secondary to chromosomal aberrations. Therefore, patients with these symptoms require specific diagnostic and therapeutic approaches.

DESIGN AND METHODS: We present an example of TTE as a presentation of karyotype abnormalities. Clinical presentation - 9.5 year old boy presented with hypospadias, bilateral cryptorchidism and right inguinal hernia and short stature.

RESULTS: Endocrine test showed low testosterone levels with adequate gonadal response. Laparoscopy was performed and revealed the presence of TTE.

CONCLUSIONS: The presence of mosaic karyotype with abnormal Y chromosome does not exclude a possibility of testis migration disorders, including TTE, caused by other (possibly genetic) factors. Laparoscopy is a technique of choice for diagnosis and treatment in cases of cryptorchidism....

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A rare presentation of true hermaphroditism: an abnormal inguinoscrotal mass.

Yurtcu M, Aydogdu B, Avunduk M, Günel E.
Journal Article 2007; 28(5): 547-548 PubMed PMID: 17984957 Citation  Keywords:  Child, Preschool, Diagnosis, Differential, Hernia, Inguinal:diagnosis, Humans, Hypospadias:complications, Male, Ovotesticular Disorders of Sex Development:complications, Sex Determination Analysis, Treatment Outcome,.   

: This study examined the differential diagnosis of inguinoscrotal masses and true hermaphroditism as well as incarcerated inguinal hernia in the differential diagnosis of abnormal inguinoscrotal masses. Inguinoscrotal masses are a rare presentation of true hermaphroditism. A child with an inguinoscrotal mass of the right groin and penoscrotal hypospadias was diagnosed. Our case suggested that abnormal inguinoscrotal masses occur in true hermaphroditism as well as incarcerated inguinal hernia. These congenital anomalies should be considered in the differential diagnosis of inguinoscrotal masses of the groin....

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