Congenital adrenal hypoplasia and hypogonadotropic hypogonadism
M. P. Golden, B. M. Lippe and S. A. Kaplan
A 19-year-old male patient with congenital adrenal hypoplasia and elevated
plasma adrenocorticotropic hormone level was found to have gonadotropin
deficiency. Other hypothalamic-pituitary functions were normal. A possible
relationship between hypothalamic-pituitary dysfunction and development of
the cytomegalic form of congenital hypoplasia of the adrenals is suggested.
Progressive Onset of Adrenal Insufficiency and Hypogonadism of Pituitary Origin Caused by a Complex Genetic Rearrangement within DAX-1
Salvi et al.
J. Clin. Endocrinol. Metab. 2002;87:4094-4100.
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IMAGe, a New Clinical Association of Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies
J. Clin. Endocrinol. Metab. 1999;84:4335-4340.
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Mutational Analysis of DAX1 in Patients with Hypogonadotropic Hypogonadism or Pubertal Delay
J. Clin. Endocrinol. Metab. 1999;84:4497-4500.
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X-Linked Adrenal Hypoplasia Congenita: A Mutation in DAX1Expands the Phenotypic Spectrum in Males and Females
J. Clin. Endocrinol. Metab. 1999;84:4501-4509.
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Combined Hypothalamic-Pituitary-Gonadal Defect in a Hypogonadic Man with a Novel Mutation in the DAX-1 Gene
Caron et al.
J. Clin. Endocrinol. Metab. 1999;84:3563-3569.
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Congenital Adrenal Hypoplasia: Clinical Spectrum, Experience with Hormonal Diagnosis, and Report on New Point Mutations of the DAX-1 Gene
Peter et al.
J. Clin. Endocrinol. Metab. 1998;83:2666-2674.
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