• Corpus ID: 32519581

Partial 17, 20-desmolase and 17 alpha-hydroxylase deficiencies in a 16-year-old boy.

  title={Partial 17, 20-desmolase and 17 alpha-hydroxylase deficiencies in a 16-year-old boy.},
  author={Dani{\`e}le Bosson and Renee Adrienne Wolter and Mich{\`e}le Toppet and J. R. M. Franckson and Eva de Peretti and Maguelone G. Forest},
  journal={Journal of endocrinological investigation},
  volume={11 7},
Thirteen plasma steroids as well as ACTH, LH and FSH were measured by specific RIAs under basal and dynamic conditions in a 16-year-old boy (normal external genitalia, 46, XY karyotype) who presented slowness and unachievement of pubertal development. On the delta 4-pathway: basal levels of testosterone and dihydrotestosterone were low- with a normal ratio-, delta 4-androstenedione and 11 beta-hydroxyandrostenedione were in the low normal range. Meanwhile, 17 alpha-hydroxyprogesterone and… 
Clinical characteristics and mutation analysis of two Chinese children with 17a-hydroxylase/17,20-lyase deficiency.
The patients manifested with hypertension, hypokalemia, sexual infantilism should be suspected of having 17a-hydroxylase/17,20-lyase deficiency and definite diagnosis is depended on mutation analysis.
Endocrine and molecular investigations in a cohort of 25 adolescent males with prominent/persistent pubertal gynecomastia
Isolated P/PPG is not always a ‘physiological’ condition and should be investigated through adequate endocrine and genetic investigations, even though larger studies are needed to better determine the real prevalence of genetic defects in such patients.