Session: OR12-Reproductive Hormones: Vital Effects Evidenced In Human Cohorts & Experimental Models
Room 102 (Moscone Center)
Subjects. We have encountered 3 novel mutations, together with already known ones, in 4 infants operated on for inguinal hernia and bilateral cryptorchidism. Mullerian remnants were discovered during surgery and were not removed in order to preserve testis vascularization. Histological examination of testes on tissue samples collected during surgery showed seminiferous tubules containing germ cells. One boy, born from consanguineous parents, harbored the homozygous mutation p.W121X, c.363G>A. Three unrelated patients had the following genotypes: p.G74W / p.R302Q; p.Y167C / c.343-344delCT and p.E382X / p.E382X, respectively.
Methods. FSH and LH were measured by means of time resolved fluoroimmunoassay on Wallac Delfia autoanalyzer (PerkinElmer, Courtaboeuf, France). Testosterone was measured by mass spectrometry on Quattro Premier equipment (Waters, Saint-Quentin en Yvelines, France). Insulin-like peptide 3 (INSL3) was measured by fluoroimmunoassay (Phoenix reagents, Burlingame CA), inhibin B (INHB) and AMH by means of chemiluminescence immunoassay (Anshlabs reagents, Webster TX). Assays were performed on samples collected before and / or after surgery in these 4 infants.
Results. In all boys AMH was undetectable. FSH and LH, testosterone, INSL3 and INHB levels were within normal ranges for age. Gonadotropins and testis hormones exhibited the normal minipubertal postnatal changes, with higher levels of FSH (1.4-2.6 IU/L), LH (2.58-3.17 IU/L), testosterone (2.47-2.6 nmol/L), INSL3 (68-96 pg/ml) and inhibin B 187-221 pg/ml) at 3-5 months of age than afterwards (0.08-0.44 IU/L, 0.04-0.54 IU/L, 0.04-0.45 nmol/l, 38-40 pg/ml, and 110-117 pg/ml, respectively).
Conclusion. These data give evidence of normal pituitary-testis function in infants with PMDS despite cryptorchidism and surgical manipulation. Given the uncertainty regarding fertility of adult males harboring a mutation in the AMH gene, a prolonged and close follow up of such patients should likely be beneficial to assess their gonadal prognosis.
Nothing to Disclose: KB, IN, PB, HB, CF, CL, CG, YR, CD, NL
*Please take note of The Endocrine Society's News Embargo Policy at http://www.endo-society.org/endo2013/media.cfm
See more of: Abstracts - Orals, Featured Poster Presentations, and Posters