Rare Diseases Symptoms Automatic Extraction

Sex steroids, precursors and metabolites deficiencies in men with isolated hypogonadotropic hypogonadism and panhypopituitarism: a GCMS-based comparative study.

[kallmann syndrome]

Context: Both testicular and adrenal steroid secretions are impaired in men with panhypopituitarism (Hypo-Pit), whereas only testicular steroid secretion is impaired in men with isolated gonadotropin deficiency (IHH) caused by normosmic congenital hypogonadotropic hypogonadism (nCHH) or Kallmann syndrome (KS). Objective: To compare serum levels of sex steroids, precursors and metabolites between men with complete IHH and those with Hypo-Pit. Patients: We studied 42 healthy men, 16 untreated men with IHH (nCHH/KS) and 23 men with Hypo-Pit (14 with craniopharyngioma, 9 with congenital hypopituitarism) receiving hydrocortisone, thyroxin and GH replacement therapy but not testosterone. Methods: Gas chromatography/mass spectrometry (GCMS) was used to measure serum levels of sex steroids (testosterone (T), dihydrotestosterone (DHT), and estradiol (E2)), their precursors (pregnenolone, 17hydroxy-pregnenolone, dehydroepiandrosterone, androstenediol, progesterone, 17hydroxy-progesterone, androstenedione) and their metabolites (androsterone, estrone, estrone sulfate), as well as pregnenolone and DHEA sulfate esters (PREGS and DHEAS). Results: All the above-mentioned steroids, and notably T, DHT and E2, were significantly lower in IHH patients than in controls but remained well above the detection limit of the relevant assays. In Hypo-Pit men, all these steroids were dramatically and significantly lower than in IHH. Interestingly, T, DHT and E2, as well as PREGS and DHEAS, were undetectable or barely detectable in Hypo-Pit men. Conclusions: Steroid deficiencies are marked but partial in men with complete IHH. In contrast, men with Hypo-Pit have a very severe overall steroid deficiency. These deficiencies could affect health and quality of life.