Here, we describe the clinical, hormonal, and molecular genetic characteristics of a Turkish patient with 17OHD, who presented to our clinic due to high blood pressure. [ncbi.nlm.nih.gov]

The components of this syndrome are so striking that the radiologist can often suggest the diagnosis months to years before all three components are apparent, if proteinuria, hypertension, or an abdominal mass develop in any child with male pseudohermaphroditism [ncbi.nlm.nih.gov]

We report a case of female pseudohermaphroditism diagnosed later on the discovery of an abdominal mass, then revealed to be an enormous ovarian cyst. Hormonal dosages suggested the presence of partial surrenalic b-hydroxylase deficiency. [moh-it.pure.elsevier.com]

At 2 weeks he required therapy for severe dehydration and projectile vomiting. The parents were first cousins and one female sibling had died suddenly at 2 months. [ncbi.nlm.nih.gov]

RESULTS: Three patients presented normal bone mineral density of the lumbar column (L1-L4) and femur neck, and the other patient presented a slight osteopenia in the lumbar column. [ncbi.nlm.nih.gov]

It is suggested that these two disorders represent different spectra of the same disorder. A unifying concept of etiopathogenesis is proposed. [ncbi.nlm.nih.gov]

A consistent karyotypic abnormality consisting of isochromosomes of the long arms of 1 and 17, and an interstitial deletion of the long arm of 5 was found in cultures of tumor cells, but no karyotypic abnormalities were found in peripheral blood lymphocytes [ncbi.nlm.nih.gov]

Torsades de pointes is a life-threatening arrhythmia associated with a number of causes, but is very rare among endocrinologic disorders. [ncbi.nlm.nih.gov]

A child with male pseudohermaphroditism, Wilms' tumor, and glomerulonephritis (Drash syndrome) was found to have a proliferative glomerular lesion, extensive renal cortical interstitial and glomerular scarring, and marked renal tubular foam cell change [ncbi.nlm.nih.gov]