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  • Title: Primary gonadal failure and precocious adrenarche in a boy with Prader-Labhart-Willi syndrome.
    Author: Garty B, Shuper A, Mimouni M, Varsano I, Kauli R.
    Journal: Eur J Pediatr; 1982 Nov; 139(3):201-3. PubMed ID: 7160409.
    Abstract:
    A 7-year-old boy with Prader-Labhart-Willi syndrome who had precocious adrenarche was found to have primary gonadal failure, as evidenced by appropriate laboratory investigations: elevated basal levels of plasma FSH and LH with exaggerated responses to LH-RH stimulation and unresponsiveness of plasma testosterone to repeated hCG stimulations. The elevated values of plasma DHEA which were found indicate an early activation of the adrenal gland. This patient demonstrates the variability of pubertal development in the Prader-Labhart-Willi syndrome, with the unusual association of primary gonadal failure and precocious adrenarche.
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