Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalmic and pituitary defects in gonadotropin production

Autor: Habiby, R L, Boepple, P, Nachtigall, L, Sluss, P M, Crowley, W F, Jameson, J L

Adrenal hypoplasia congenita (AHC) is an X-linked disorder that typically presents with adrenal insufficiency during infancy. Hypogonadotropic hypogonadism (HHG) has been identified as a component of this disorder in affected individuals who survive

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https://europepmc.org/articles/PMC507522/

Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression.

Autor: Achermann JC; Division of Endocrinology, Metabolism, and Molecular Medicine, Northwestern University Medical School, Chicago, Illinois 60611, USA., Ito M, Silverman BL, Habiby RL, Pang S, Rosler A, Jameson JL

Publikováno v: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2001 Jul; Vol. 86 (7), pp. 3171-5.

Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay.

Autor: Achermann JC; Division of Endocrinology, Metabolism, and Molecular Medicine, Northwestern University Medical School, Chicago, Illinois 60611, USA., Gu WX, Kotlar TJ, Meeks JJ, Sabacan LP, Seminara SB, Habiby RL, Hindmarsh PC, Bick DP, Sherins RJ, Crowley WF Jr, Layman LC, Jameson JL

Publikováno v: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 1999 Dec; Vol. 84 (12), pp. 4497-500.

Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalmic and pituitary defects in gonadotropin production.

Autor: Habiby RL; Division of Endocrinology, Metabolism, and Molecular Medicine, Northwestern University Medical School, Chicago, Illinois 60611, USA., Boepple P, Nachtigall L, Sluss PM, Crowley WF Jr, Jameson JL

Publikováno v: The Journal of clinical investigation [J Clin Invest] 1996 Aug 15; Vol. 98 (4), pp. 1055-62.

Bone mineral density during treatment of central precocious puberty.

Autor: Neely EK; Department of Pediatrics, Stanford University Medical Center, California 94305, USA., Bachrach LK, Hintz RL, Habiby RL, Slemenda CW, Feezle L, Pescovitz OH

Publikováno v: The Journal of pediatrics [J Pediatr] 1995 Nov; Vol. 127 (5), pp. 819-22.