Androgen treatment represents a main aspect of clinical management of boys with hypogonadism from adolescence onwards. Androgen replacement therapy is required to induce secondary sexual characteristics and adult male body composition, to optimize the accrual of bone mineral content and muscle mass, and to promote physical and social well-being. Testosterone is the only sex steroid hormone suitable for treatment in hypogonadal boys as it fulfils all the physiological requirements. However, the optimal regimens for androgen replacement therapy during adolescence remain to be defined. The new testosterone formulations (patch, gel, transbuccal and long-acting) have been designed for use in adults and the available dosages are probably too high to induce and manage puberty in adolescents properly. The aim of this paper is to provide practical indications for androgen treatment in male adolescents with hypogonadism.
[Show abstract][Hide abstract] ABSTRACT: Background:
The aim of the study was to evaluate prostate transrectal ultrasonography findings in men with congenital hypogonadism treated by long term testosterone replacement therapy.
We have gradually included 31 men with congenital hypogonadism in period of 2001-2011. The average follow-up was 7.3 years (2 months - 10.8 years). We have used Sustanon® 250 i.m. every 3 weeks or Nebido® i.m. every 3 months for continual testosterone replacement therapy. We performed to all patients the transrectal ultrasonography of prostate and seminal vesicles by biplanar rectal probe every 6 months.
During the transrectal ultrasonography we observed in 22 (71.0 %) patients changes in prostatic tissue. In case of 12 patients were diagnosed asymptomatic prostatic cysts, in 9 patients prostatolithiasis and in 5 patients changes in echogenity of prostatic tissue. In 2 patients was found simultaneous occurrence of prostatic cyst and prostolithiasis, in further 2 patients simultaneous occurrence of hyperechogenic prostatic lesion and prostatolithiasis. The above described findings were diagnosed in 5 patients in the treatment lasting from 3 to 5 years, for the other 17 men with hormone replacement therapy longer than 5 years.
The study presents long term results of complex treatment in patients with disorders of sexual development, onset and progress of puberty. The long term treatment of these patients in interdisciplinary cooperation of endocrinologist and andrologist may significantly contribute to clarify an impact of testosterone replacement therapy on prostate development.
[Show abstract][Hide abstract] ABSTRACT: This review of disorders of sex development (DSDs) in boys and men will outline the conditions that may lead to this phenotype, present some guidance on how to evaluate and investigate affected cases and then review the medical and surgical management and subsequent outcome.
DSDs are a wide range of relatively rare conditions which need multidisciplinary input. The underlying cause is clearer in girls with DSDs, but the actual diagnosis remains unclear in the majority of boys with DSDs.
There is a need to improve the diagnostic yield and develop standardized methods for assessing, describing and investigating DSDs as well as for reporting outcome. This will lead to improved clinical management and genetic counselling.
Current opinion in endocrinology, diabetes, and obesity 04/2012; 19(3):190-6. DOI:10.1097/MED.0b013e32835328a6 · 3.37 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disease caused by mutations of the autoimmune regulator gene. The clinical spectrum of the disease encompasses several autoimmune endocrine and non endocrine manifestations, which may lead to acute metabolic alterations and eventually life-threatening events. The clinical diagnosis is defined by the presence of at least two components of the classic triad including chronic mucocoutaneous candidiasis (CMC), chronic hypoparathyroidism (CH), Addison's disease (AD). Other common features of the disease are hypergonadotropic hypogonadism, alopecia, vitiligo, autoimmune hepatitis, type 1 diabetes, gastrointestinal dysfunction. APECED usually begins in childhood. CMC is the first manifestation to appear, usually before the age of 5 years, followed by CH and then by AD. The clinical phenotype may evolve over several years and many components of the disease may not appear until the 4th or 5th decade of life. The phenotypical expression of the syndrome shows a wide variability even between siblings with the same genotype. In view of this heterogeneity, an early diagnosis of APECED can be very challenging often leading to a considerable diagnostic delay. Therefore, clinicians should be aware that the presence of even a minor component of APECED in children should prompt a careful investigation for other signs and symptoms of the disease, thus allowing an early diagnosis and prevention of severe and life-threatening events. Aim of this review is to focus on clinical presentation, diagnosis and management of the major components of APECED in children particularly focusing on endocrine features of the disease.
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