PubMed Health⌕ Search

PubMed · 11694238

Urinary steroid profile analysis.

Abstract

BACKGROUND: A detailed analysis (profile) of the steroid metabolites in urine is useful for diagnosis of adrenal problems. Hospitals from many of UK health regions and around the world use the specialist assay and advisory service at UCLH. According to the total workload, samples are from patients with precocious puberty/premature adrenarche (21%), ambiguous genitalia (17%), Cushing's syndrome (13%), tumors (11%), polycystic ovaries (9%), hypertension (6%), problems of growth and development (5%), salt-loss (3%) and male pseudohermaphroditism (3%). Sixty percent of samples are from children and comprehensive reference data for steroid excretion rates in childhood unique to this laboratory were essential for interpretation of the results. CONCLUSION: The recognition and high excretion rates of certain steroids not easily measured in blood or urine by any other assays was particularly in cases of hypertension and tumors. The assay is cost effective by comparison with the combined costs of several individual hormone measurements but that cost may delay early referral to a specialist centre and that is not in the best interests of the families involved.

Explore related subjects

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

J W Honour. 2001. Urinary steroid profile analysis.. https://doi.org/10.1016/s0009-8981(01)00648-9

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

DAX1: Increasing complexity in the roles of this novel nuclear receptor.

DAX1 (NR0B1) is a nuclear receptor with a characteristic C-terminal ligand binding domain, but an atypical DNA binding domain. Mutations in the DAX1 gene cause adrenal hypoplasia congenita (AHC) establishing its biological importance. Recent studies highlight the complexities of DAX1 regulation and function. There is considerable phenotypic variability in AHC suggesting the existence of DAX1 modifier genes and environmental influences on DAX1 function. The findings of an alternatively spliced DAX1A, more common than DAX1 in all tissues except testis, of DAX1 homodimers, and of DAX1 heterodimers with a number of transcription factor partners including DAX1A and SHP point to an expanded transcription regulatory network under DAX1 control. Model organisms (mice and zebrafish) are being used to identify other DAX1 functions and modifier genes to understand the pathogenesis of AHC and the lack of genotype-phenotype correlation.

Adrenal Gland Diseases↗

Pheochromocytomas and secreting paragangliomas.

Catecholamine-producing tumors may arise in the adrenal medulla (pheochromocytomas) or in extraadrenal chromaffin cells (secreting paragangliomas). Their prevalence is about 0.1% in patients with hypertension and 4% in patients with a fortuitously discovered adrenal mass. An increase in the production of catecholamines causes symptoms (mainly headaches, palpitations and excess sweating) and signs (mainly hypertension, weight loss and diabetes) reflecting the effects of epinephrine and norepinephrine on alpha- and beta-adrenergic receptors. Catecholamine-producing tumors mimic paroxysmal conditions with hypertension and/or cardiac rhythm disorders, including panic attacks, in which sympathetic activation linked to anxiety reproduces the same signs and symptoms. These tumors may be sporadic or part of any of several genetic diseases: familial pheochromocytoma-paraganglioma syndromes, multiple endocrine neoplasia type 2, neurofibromatosis 1 and von Hippel-Lindau disease. Familial cases are diagnosed earlier and are more frequently bilateral and recurring than sporadic cases. The most specific and sensitive diagnostic test for the tumor is the determination of plasma or urinary metanephrines. The tumor can be located by computed tomography, magnetic resonance imaging and metaiodobenzylguanidine scintigraphy. Treatment requires resection of the tumor, generally by laparoscopic surgery. About 10% of tumors are malignant either at first operation or during follow-up, malignancy being diagnosed by the presence of lymph node, visceral or bone metastases. Recurrences and malignancy are more frequent in cases with large or extraadrenal tumors. Patients, especially those with familial or extraadrenal tumors, should be followed-up indefinitely.

Adrenal Gland Diseases↗