Androgen therapy in hypogonadal adolescent males.
ABSTRACT 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.
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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 · 3.77 Impact Factor
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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.Journal of endocrinological investigation 05/2013; 36(10). DOI:10.3275/8999 · 1.55 Impact Factor
Article: L’induzione della pubertà[Show abstract] [Hide abstract]
ABSTRACT: Il trattamento dell’ipogonadismo ha due obiettivi: (1) lo sviluppo dei caratteri sessuali secondari; e (2) induzione della fertilità. Nei maschi, l’uso di dosi crescenti di testosterone a partire dai 14–15 anni determina la comparsa e lo sviluppo dei caratteri sessuali secondari e un’accelerazione della crescita staturale. L’induzione della pubertà nelle ragazze rimane un tema controverso. La terapia con estrogeni dovrebbe iniziare intorno ai 12–13 anni. L’induzione della pubertà rappresenta un momento di particolare importanza per le scelte e le decisioni che comporta. I pazienti dovrebbero essere rassicurati sui risultati della terapia sostitutiva che generalmente consente un normale sviluppo dei caratteri sessuali, e per il cui mantenimento si devono utilizzare i dosaggi terapeutici utili più bassi.04/2014; 15(2):65-71. DOI:10.1007/s40619-014-0021-1