17alpha-hydroxylase/17,20-lyase deficiency caused by a novel homozygous mutation (Y27Stop) in the cytochrome CYP17 gene.

Context: 17alpha-Hydroxylase/17,20-lyase deficiency, a rare autosomal recessive form of congenital adrenal hyperplasia, is caused by mutations in the cytochrome P450c17 (CYP17) gene. We report on a case of complete 17alpha-hydroxylase/17,20-lyase deficiency due to a novel homozygous mutation of CYP17.

Design: A 20-yr-old female Turkish patient (46,XX) presented with primary amenorrhea, sexual infantilism, and easy fatigability.

Carl Liebermeister (1833-1901): a pioneer of the investigation and treatment of fever and the developer of a statistical test.

In the second half of the nineteenth century, when the typical course of various febrile clinical phenomena was found to be specific to particular infectious diseases, Carl Liebermeister successfully pioneered the investigation of the patho physiology of fever and the regulation of body temperature. He applied biophysical and pharmacological antipyresis, especially for the treatment of typhoid fever, and developed new statistical tools for the evaluation of therapeutic results.

Homozygous mutation within the conserved Ala-Phe-Asn-Glu-Thr motif of exon 7 of the LH receptor causes male pseudohermaphroditism.

Background: Human chorionic gonadotropin/luteinizing hormone (hCG/LH) function in the male is mediated by the LH receptor (LHR) and is crucial for the normal development of internal and external genitalia. We report a 46, XY patient who presented at the age of 16 with a female phenotype and delayed puberty. Gonads were located bilaterally in the inguinal canal, removed surgically and showed hypoplastic Leydig cells.