Elsevier

Urology

Volume 79, Issue 3, March 2012, Pages 684-686
Urology

Pediatric Case Report
Clinical Features and Testicular Morphology in Patients with Kallmann Syndrome

https://doi.org/10.1016/j.urology.2011.10.032Get rights and content

Kallmann syndrome (KS) is a genetic disorder characterized by the simultaneous occurrence of idiopathic hypogonadotropic hypogonadism (IHH) and anosmia. Here, we present 3 cases of KS with detailed description. In Case 1, testicular morphology was examined by testicular biopsy, and Leydig cells were examined by immunohistochemistry using antibodies against Ad4BP/SF1. Contrary to our predictions, the present study revealed the presence of Leydig cells in the testis. Testicular morphology in the patients with KS is more varied than expected, and further investigation is required to elucidate hormonal effects on normal testicular development.

Section snippets

Case 1

An 11-year-old boy was referred to our hospital for right cryptorchidism. His right testis was nonpalpable, and contralateral testicular size was 9 × 8 × 8 mm. We performed laparoscopic surgery and found that the right testis was intracanalicular. With simultaneous laparoscopic procedures, we were able to place the testis in the scrotum. We also performed a testicular biopsy during the same surgery. Histologic examination of the testis showed immature seminiferous tubules with mild interstitial

Comment

Here, we present 3 case reports of KS and describe the details of each case. Importantly, immunohistochemistry for Ad4BP/SF1 of the testis in one case was performed, and we assessed the presence of somatic cells in the testis of IHH. Contrary to our predictions, some Leydig cells were detected in the testis of IHH.

KS is a developmental disorder characterized by the occurrence of simultaneous IHH and olfactory dysfunction.1 KS is caused by an isolated defect in the secretion of GnRH by the

Conclusions

We have reviewed 3 cases of diagnosed KS and assessed the properties of each case. Although it is difficult to distinguish between KS and CDGP, LH-RH and hCG tests were useful for differential diagnosis. The present study showed the presence of Leydig cells in the testis of one patient with IHH using immunohistochemistry for Ad4BP/SF1, even though Leydig cells were reportedly absent. Testicular morphology in the patients with KS is more varied than expected, and further investigations are

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