ESPE2015 Poster Category 2 DSD (25 abstracts)
Gonadotropin Surge During the Early Postnatal Activation Period in 46,XX Testicular/Ovotesticular Disorder of Sex Development Patients
Mariana Costanzo , Gabriela Guercio , Roxana Marino , Pablo Ramirez , Natalia Perez Garrido , Elisa Vaiani , Esperanza Berensztein , Juan Manuel Lazzati , Mercedes Maceiras , Marco A Rivarola & Alicia Belgorosky
Hospital de Pediatría Garrahan, Buenos Aires, Argentina
Background: During the 1st months of postnatal life serum luteinizing hormone (LH) levels in girls are lower than in boys. The mechanism of this sex difference is not known. It has been proposed that foetal or perinatal androgenic steroids have an effect on the control of LH secretion.
Objective and hypotheses: To study the possible influence of high levels of androgens on serum gonadotropins during the 1st months of life in a cohort of nine 46,XX testicular/ovotesticular DSD patients during the early postnatal activation period.
Method: We analysed the hormonal profile of nine 46,XX testicular/ovotesticular DSD patients between 12 and 142 days of age. Inclusion criteria required lack of detection of SRY gene in peripheral genomic DNA and an adequate male testosterone response to hCG stimulation.
Results: Gonad histological studies revealed bilateral ovotestes in three patients, one ovary and one testis in two, one ovotestis and one testis in one patient, while the remaining three patients presented bilateral disgenetic testes. In all patients, serum basal LH levels (mean±S.D.: 5.23±3.11, range 1–10.9 U/l) were significantly higher than in normal female (P<0.05), and in three were even higher than reference values (RV) for males, while serum basal FSH levels (mean±S.D.: 3.61±1.89 UI/l, range 1.3–6.13 UI/l) were in all patients within female RVs and in six within male RVs. Basal serum FSH/LH ratio (mean±S.D.: 0.99±1.12, range 0.25–3.83) was within the normal range for the male sex and below the normal range for the female sex.
Conclusion: In conclusion this study reinforces the concept that prenatal androgen exposure might be involved in programming of the hypothalamo–pituitary–gonadal axis independently of chromosomal sex.
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