Presentation
Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita. J Clin Endocrinol Metab. 2002;87:44–8. [ncbi.nlm.nih.gov]
Three weeks later he presented acutely to the local hospital with failure to thrive and severe dehydration. [datospdf.com]
Entire Body System
- Tall Stature
Inappropriate tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX-1 gene. Am J Med Genet A. 2005;135:72–4. [ncbi.nlm.nih.gov]
In healthy Cerebellar ataxia, external ophtalmoplegia, pigmented retinopathy, cardiac conduction defects, growth failure, diabetes Malabsorption with severe diarrhoea, hepatosplenomegaly, hepatic cirrhosis Tall stature Achalasia, alacrimia, neurologic [datospdf.com]
- Precocious Puberty
A novel DAX-1 mutation presented with precocious puberty and hypogonadotropic hypogonadism in different members of a large pedigree. J Pediatr Endocrinol Metab. 2013;26:551–5. [ncbi.nlm.nih.gov]
puberty in both genders, hirsutism in late-onset forms Virilised genitalia in female infants, pseudo-precocious puberty in both genders, hirsutism in late-onset forms, low-renin hypertension Ambiguous external genitalia in male infants, mild virilisation [datospdf.com]
- Disability
Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature. Eur J Med Genet. 2015;58:341–5. [PubMed: 25917374] Iyer AK, McCabe ER. Molecular mechanisms of DAX1 action. Mol Genet Metab. 2004;83:60–73. [ncbi.nlm.nih.gov]
Treatment
Acute adrenal crisis precipitated by pneumonia was diagnosed and treatment with i.v. hydrocortisone and saline together with antibiotics was initiated. [datospdf.com]
Diagnosis and treatment of primary adrenal insufficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2016;101:364–89. [ncbi.nlm.nih.gov]
Pathophysiology
The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. N Engl J Med 335: 1870, 2005. Article Google Scholar Andersson HC, Frentz J, Martinez JE, Tuck-Muller CM, Bellizaire J. Adrenal insufficiency in Smith-Lemli-Opitz syndrome. [link.springer.com]