[Testicular adrenal rest tumors (TARTs) and adrenogenital syndrome (AGS) - Do not mix up with malignant testicular tumors!] / Testikuläre adrenale Resttumoren beim adrenogenitalen Syndrom.

Testicular adrenal rest tumors and adrenogenital syndrome (AGS) - Do not mix up with malignant testicular tumors! Testicular adrenal residual tumors (TARTs) frequently occur in men with adrenogenital syndrome. Without knowledge of AGS, diagnosis is problematic due to difficult differentiation from other testicular tumors. However, early treatment is crucial for maintaining or regaining fertility, among other aspects. This article provides background knowledge for general practitioners.

Testicular tumors of adrenogenital syndrome: From physiopathology to therapy.

Testicular tumor of adrenogenital syndrome is a rare and benign anomaly usually presenting as bilateral testicular masses. It is the most important cause of infertility in adult male congenital adrenal hyperplasia. Distinction between testicular tumors of adrenogenital syndrome and Leydig cell tumors can be problematic; it is based on clinical, histopathologic, immunohistochemical and endocrine features. Biopsy is advised in cases of longstanding tumors in infertile patients and when surgery is indicated. Fertility preservation is a key management goal in testicular tumor of adrenogenital syndrome. In stages 2 and 3, intensified glucocorticoid treatment is recommended as a first step treatment. Sparing surgical approach is preferred for tumors of stage 4 and steroid unresponsive masses. Magnetic resonance imaging is recommended before surgery. The only indication of surgery in stage 5 is testicular pain.

Unilateral asymptomatic testis enlargement in children and adolescents.

In literature a well codified definition of unilateral asymptomatic testis enlargement does not exist. Therefore in these cases the pediatrician or adolescentologist will have to make a clinical and diagnostic evaluation in order to exclude: a) an enlarged testis secondary to tumors, surgery, or endocrinological diseases; b) a small testis due to a previous (ex. cryptorchidism) or current disease (e.g. varicocele).The presence of a mild difference in testis volumes during puberty is not at all rare. This situation may be due to the technique used for evaluation of testis volume or secondary to a varicocele. The identification of variants of testis enlargement is important, because, while on one hand there are conditions without clinical relevance, on the other hand, there are diseases that require early diagnosis and immediate treatment. The Authors report a brief review of the literature and their own clinical experience. 14 patients with unilateral testis enlargement were observed. At the first examination, mean age was 12.3±1.2 years and the volume of the enlarged testis varied between 4 ml and 20 ml (mean volume 10±4 ml) versus 1.5 ml and 10 ml (mean volume 5±2 ml) of the contralateral testis. In 75% of cases the right testis was affected. During the ten year follow-up, the volume of the enlarged testis never exceeded 25 ml and progressive reduction of the difference between the two testes was demonstrated. Therefore, they propose another clinical condition defined as transitory unilateral testis enlargement of puberty.

[Adrenal tumors. Principles of diagnostics and operative treatment]. / Nebennierentumoren. Grundlagen der Diagnostik und operativen Therapie.

Adrenal masses are very heterogeneous and comprise benign or malignant tumors, unilateral or bilateral masses and variable endocrine activity. Because of these attributes adrenal gland masses are a clinical challenge. This article gives a summary of diagnostic steps and indications for adrenal surgery including perioperative management.

[Lanthanide fluorescence immunoassay of 17alpha-hydroxyprogesterone in dried blood samples for neonatal screening for adrenogenital syndrome].

The first Russian assay of 17alpha-hydroxyprogesterone in dried blood spots has been developed to use for neonatal screening for adrenogenital syndrome (AGS). The technique is modeled on solid-phase lanthanide fluorescence immunoassay with time-resolution detection and it ensures the hormone to be determined in a 3.2-mm dried blood spot in the concentration range of 0 to 400 nmol/l, the coefficient of variation being not greater than 15%, and the results correlated with those of the DELFIA Neo170HP test system. The tests of 387 dried blood samples carried out in three regions have demonstrated the efficiency of the technique for screening and verifying neonatal AGS.

[Polycystic ovary syndrome and congenital adrenal hyperplasia: a different entity for comparable phenotypes?]. / Syndrome des ovaires potykystiques et syndrome adrénogenital: une entité différente pour un phenotype comparable?

The phenotypes of the polycystic ovarian syndrome (PCOS) and congenital adrenal hyperplasia syndrome (CAHS) present a number of similarities. The main symptoms of PCOS are obesity, menstrual disorders, hirsutism, and low fertility in which the pituitary and adrenal glands are spared. The CAHS is a group of various entities all characterised by different degrees of malfunction of the 21-hydroxylase (CYP21) enzyme. The consequences are a downfall of the levels of aldosterone and cortisol, and the hyperproduction of adrenal androgen hormones. It is capital to be able to recognise these 2 entities in terms of identification of high risk families because the female foetuses suffering from CAHS will undergo severe virilization of there genitals in utero, which can efficiently be prevented by a administration of corticotherapy to the mother throughout the pregnancy.

[Molecular diagnostics in endocrine diseases]. / Molekylaerdiagnostikk av endokrine sykdommer.

Molecular diagnostic techniques provide an unsurpassed opportunity to understand the pathophysiological basis of endocrine disorders. Diseases have been associated with mutations in almost every gene known to have a role in either the production or secretion of a hormone or the mediators of hormone signalling. Even though most of these mutations are rare and account for only a small fraction of endocrine diseases, molecular diagnostics offers a valuable tool for the clinician in these cases. The most common endocrine disorders such as autoimmune thyroiditis, type 2 diabetes mellitus, osteoporosis, growth disorders, and obesity have all major genetic components, but these are mostly unknown. In this review the clinical implications of molecular diagnostics are illustrated for some endocrine diseases: congenital adrenal hyperplasia, congenital hypothyroidism, thyroid hormone resistance, familial hypocalciuric hypercalcaemia, growth hormone deficiency and resistance, and monogenic obesity. Improved diagnostic specificity has direct implications for treatment and follow up in these syndromes. Molecular diagnostics in endocrine tumours and diabetes are presented in two other articles in this series.