Premature pubarche during minipuberty - literature review and two case reports.

INTRODUCTION: Isolated premature pubarche (PP) in infancy may be the reason for many diagnostic difficulties. This is due to the low incidence and, therefore, the limited number of studies on this subject and the lack of strict laboratory standards because of the physiological variability of gonadotropic hormone and androgen concentrations during minipuberty. MATERIAL AND METHODS: We aimed to present current knowledge about PP in infancy based on the literature review and 2 cases of male infants with scrotal hair during minipuberty. RESULTS: Isolated hair in the pubic region in a boy during the period of minipuberty requires differential diagnosis. After excluding serious aetiology, it seems to be a mild, self-limiting variant of precocious puberty. The phenomenon is probably a result of increased sensitivity of the hair follicles to transiently increased androgen concentration. CONCLUSIONS: Isolated pubic hair in infancy as a mild, self-limiting variant of precocious puberty in infants should be a diagnosis of exclusion. The condition resolves spontaneously, but it absolutely requires further follow-up to exclude serious aetiology in the case of puberty progression.

Testicular adrenal rest tumors in boys with congenital adrenal hyperplasia: 3D US and elastography--do we get more information for diagnosis and monitoring?

BACKGROUND: Testicular adrenal rest tumors (TART) are the nodular testicular lesions deriving from the adrenal remnant tissue reported in boys and men with congenital adrenal hyperplasia. Until now, the diagnostics of TART have been based on a combination of clinical features, imaging methods (primarily two dimensional ultrasound--2D US), response of the foci to glycocorticosteroid (GCS) therapy and exclusion of the neoplastic process. Application of 2D US supplies however a limited range of information about the volume, demarcation, structure and vascularization of the lesions. OBJECTIVE: To define whether the use of 3D US, power Doppler and elastography changes the algorithm of the diagnostics and monitoring or treatment of TART. MATERIAL AND METHODS: In this study, modern ultrasound techniques such as 3D US and elastography were introduced in two boys with TART. RESULTS: The 3D power Doppler option gives the opportunity for accurate assessment of the volume of testes and adrenal tissue foci and their vascularization. Sonographic elastography allows the assessment of stiffness of adrenal tissue areas compared to normal testis parenchyma. CONCLUSION: The use of these modern techniques enables more adequate and advanced diagnostics, and more precise monitoring of the effects of treatment in patients with TART.

Testicular adrenal rest tumours in boys with congenital adrenal hyperplasia: case report and literature review.

Nodular testicular lesions derived from adrenal tissue (testicular adrenal rest tumours - TART) in boys and men with congenital adrenal hyperplasia (CAH) lead to testicular structure damage, spermatogenesis disorders, and infertility. Hyperplasia of the ectopic adrenal tissue in testes is associated with high levels of the adrenocorticotropic hormone (ACTH) in blood serum. The development of non-invasive methods of diagnostic imaging allows detection of testicular lesions in adolescents and children. The basic method for TART detection is imaging with ultrasonography (USG) being the most widely available method. Since these mild testicular lesions can cause impaired fertility, periodic palpation and testicular ultrasonography should be performed in patients with CAH in order to prevent infertility.