Late diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Congenital adrenal hyperplasia results from 21-hydroxylase deficiency in more than ninety percent of cases. The classical form of 21-hydroxylase deficiency presents in the neonatal period with virilization or adrenal insufficiency, with or without concurrent salt wasting. We report on a rare case of classic 21-hydroxylase deficiency diagnosed in late adulthood. A 39-year-old male patient presented for workup of infertility. Urologic investigation revealed small testes, bilateral testicular masses, and asthenozoospermia. The patient's steroid metabolism showed markedly increased levels of adrenal androgens, in particular of 17-hydroxyprogesterone amd 21-deoxycortisol. The gas chromatographic-mass spectrometric (GC-MS) urinary steroid profile was dominated by metabolites of 17-hydroxyprogesterone, while the endogenous glucocorticoid production was subnormally low. ACTH levels in plasma were elevated. These hormonal findings were consistent with 21-hydroxylase deficiency. Therapy with dexamethasone was initiated. The CTP21A2 gene analysis revealed the mutation I172N (ATC --> AAC) in exon 4 of allele 1 and a large gene deletion in allele 2. Cases of 21-hydroxylase deficiency diagnosed in late adulthood are rare; however, clinicians should be alert of this possibility.     

Entwicklung einer neuen Säuglingsnahrung mit Thermobacterium bifidum. Ein Beitrag zum Problem der Sauermilchnahrung

Ohne Zusammenfassung     

The development of the Tuebingen Cushing's disease quality of life inventory (Tuebingen CD-25). Part I: construction and psychometric properties

Objective To develop a disease‐specific questionnaire for Cushing’s disease (CD), the Tuebingen Cushing’s disease quality of life inventory (Tuebingen CD‐25). Methods Sources for item generation consisted of technical literature, interviews with patients and the rating of neurosurgeons, endocrinologists and a neuropsychologist. A preliminary inventory with 64 items was handed out to 63 CD patients. Twenty‐eight patients filled out the questionnaire preoperative, the remaining 35 patients evaluated their health‐related quality of life (HRQoL) retrospectively. Item reduction and scale generation followed the principles of classical test theory. Validation was performed with the WHOQoL‐BREF. Results The final version of the Tuebingen CD‐25 contained 25 items, showed high reliability (Cronbach’s alpha = 0·93) and validity (r = ?0·65) and includes the subdomains Depression, Sexual Activity, Environment, Eating Behaviour, Bodily Restrictions and Cognition. The retrospective rating of the Tuebingen CD‐25 showed similar results compared to the pretreatment group. We found a non‐linear correlation between the Tuebingen CD‐25 scores and patients’ age, younger (21–30 years) and middle‐aged (51–60 years) patients having inferior HRQoL than patients between 31 and 50 years and older than 61 years. Preoperative 24 h urinary free cortisol (UFC) levels correlated significantly with the subscale Cognition and only marginally failed significance level for the subscale Eating Behaviour, while preoperative cortisol and ACTH levels did not correlate with any scale. Conclusion The Tuebingen CD‐25 is a valid and reliable instrument to evaluate HRQoL in CD. Based on impairment of HRQoL for the different subdimensions, specific support can be offered to the patients.     

Case reports

The clinical presentation of lead intoxication may vary widely and in the absence of a high clinical index of suspicion, the diagnosis may be missed. The effects of lead on mitochondrial oxidative phosphorylation and its interaction with calcium-mediated processes explain the heterogenous presentation. In this case report, the diagnosis was finally made when bilateral wrist drop developed on top of abdominal cramps and anemia. Before, ascites raised the suspicion of a tumor. Therefore, each element of the triad of unexplained anemia, abdominal cramps, and bilateral wrist (or foot) drop should lead any physician to consider the diagnosis of lead intoxication. This case also illustrates the importance of a careful and meticulous social history in patient management.