Leydig cell tumour and giant adrenal myelolipoma associated with adrenogenital syndrome: a case report with a review of the literature.

CONTEXT: Male patients with congenital adrenal hyperplasia (CAH) may develop bilateral testicular adrenal rest tumours (TARTs). These tumours, in most cases, regress with glucocorticoid therapy and their histological differentiation from Leydig-cell tumors is quite difficult. OBJECTIVE: The aim of this study was to differentiate the histological and clinical features of the TARTs from those of the Leydig-cell tumours. METHODS: The authors report a case of bilateral Leydig-cell tumour associated with giant bilateral adrenal myelolipoma in a male with adrenogenital syndrome who was submitted to a bilateral orchiectomy. RESULTS: Testicular neoplasia continue to grow despite adequate hormonal treatment and a bilateral orchiectomy was performed. The histopathological examination of the specimen ultimately confirmed the diagnosis of bilateral Leydig-cell tumour. CONCLUSIONS: This case shows the importance of all the relevant examinations, blood chemistry analysis, and instrumental tests in the differential diagnosis of TARTs and other testicular tumours.

[Hemiconvulsion-hemiplegia-epilepsy syndrome in a girl with adrenogenital syndrome]. / Hemikonvulsivt hemiplegisk epileptisk syndrom hos pige med adrenogenitalt syndrome.

Hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome is a very rare condition caused by a fever-associated status epilepticus causing various degrees of hemiplegia and secondary epilepsy affecting children under the age of four. The aetiology is not fully understood. We report a case of a two-year-old girl with adrenogenital syndrome presenting with HHE syndrome in the course of a bacterial septicaemia.

[Chronic suicidality in depression due to untreated adrenogenital syndrome]. / Chronische Suizidalität bei organisch bedingter Depression infolge eines adrenogenitalen Syndroms.

A 38-year-old female suffered from adrenogenital syndrome with 21-hydroxylase deficiency requiring a corticosteroid substitution. The virilized patient claims to have discontinued treatment with corticosteroids since the age of 15. In the 12 months prior to admission, the patient experienced addisonian crises and repeated decompensation with depressive-suicidal symptoms. Due to the second suicide attempt within a short period, the patient underwent psychiatric treatment presenting an organic depressive syndrome. Under sufficient medication including corticosteroids, antidepressants, and mood stabilizing therapy, the psychopathologic findings improved impressively. Noncompliance after discharge led to a relapse and another suicide attempt, which remitted promptly after adequate therapy.

[Treatment of adult men with congenital adrenal hyperplasia syndrome due to 21-hydroxylase deficiency]. / Behandlung des klassischen adrenogenitalen Syndroms mit 21-Hydroxylase-Defekt bei erwachsenen Männern.

Information about the treatment of males with congenital adrenal hyperplasia (CAH) is scarce and there are no therapeutical guidelines. The aim of this review is to provide a survey of the current data. An extensive literature research was performed in PubMed for relevant articles published in the last ten years. The aim in the treatment of adult male CAH patients is preservation of fertility, prevention of an addisonian crisis, blood pressure management, prevention of testicular adrenal rest tumors (TART), maintaining well-being and good quality of life, satisfactory sexual function and prevention of long-term side effects of gluco- and mineralocorticoid therapy. The change from paediatric to adult medicine should be handled in a transition outpatient clinic organized by paediatric and adult endocrinologists. Most studies have included only small numbers of patients. The steroid therapy is usually orientated on an individual basis; but, general guidelines are lacking. It is reported that fertility is often impaired and related to the occurrence of TART. Some of these tumors are responsive to altered glucocorticoid therapy. However, glucocorticoid-resistant TART have been described, and testis-sparing surgery seems to be a treatment option. A future system of regular follow-up visits and standardized therapy guidelines are essential to provide a better medical care and a higher quality of life for male patients with CAH.

Clinical and pathological features associated with the testicular tumor of the adrenogenital syndrome.

PURPOSE: Testicular tumor of the adrenogenital syndrome is a rare clinical entity found in young men with endocrine disorders. Histologically it resembles Leydig cell tumor. We 1) reviewed the clinical features of testicular tumor of the adrenogenital syndrome and 2) determined if special histopathological features of the tumor and synaptophysin reactivity could distinguish testicular tumor of the adrenogenital syndrome from Leydig cell tumor. MATERIALS AND METHODS: We reviewed the medical and pathological records for all patients with testicular tumor of the adrenogenital syndrome seen at our institution from 1978 to 2004. These tumors were examined by histological and immunophenotypic methods for comparison to Leydig cell tumor. RESULTS: A total of 14 males with an endocrine disorder had pathological evidence of testicular tumor of the adrenogenital syndrome. These tumors were often bilateral (93% or 13 of 14 cases), associated with pain (92% or 12 of 13) and refractory to medical management with high dose exogenous steroids (93% or 13 of 14). Testicular tumor of the adrenogenital syndrome was managed by tumor enucleation in 7 patients (54%) and by radical orchiectomy in 6 (46%). All patients had resolution of pain at 3-month followup. Upon histological review features found to be more common to testicular tumor of the adrenogenital syndrome compared with Leydig cell tumor were nuclear pleiomorphism, low mitotic activity, extensive fibrosis, lymphoid aggregates, adipose metaplasia and prominent lipochrome pigment. Synaptophysin (ICN, Costa Mesa, California) reactivity was strong in testicular tumor of the adrenogenital syndrome but rarely observed in Leydig cell tumor. CONCLUSIONS: In our series medical treatment failed in patients with testicular tumor of the adrenogenital syndrome and conservative surgical therapy was possible in select individuals. We identified special histopathological and immunophenotypic features, including synaptophysin staining, which distinguish testicular tumor of the adrenogenital syndrome from Leydig cell tumor.

Manifestations ophtamologiques au cours du syndrome d'Apert : a propos d'un cas

Introduction : Parmi les craniostenoses; le syndrome d'Apert demande la collaboration de plusieurs specialistes; pour sauver ce qui peut l'etre de la fonction visuelle des patients et permettre un developpement cerebral le plus proche de la normale. Observation : Nous presentons le cas d'une jeune suivie et traitee depuis son jeune age pour un syndrome d'Apert. Elle a subi plusieurs interventions successives pour garder a un age assez avance une fonction visuelle appreciable a 3/10. Les modifications anato- miques ont ineluctablement influe sur l'etat visuel de la patiente avec une myopie forte; un astigmatisme relativement important et une atrophie papillaire partielle.Discussion : D'origine genetique; le syndrome d'Apert est du a une mutation allelique du recepteur 2 d'un facteur fibroblastique. Les signes de souffrance cerebrale sont inevitables; et l'atrophie optique relative represente la sequelle fonctionnelle principale. Conclusion : Une prise en charge de longue haleine est necessaire dans le syndrome d'Apert pour esperer sauver une fonction visuelle utile