• Publications
  • Influence
Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline.
TLDR
Clinical practice guidelines for congenital adrenal hyperplasia (CAH) recommend universal newborn screening for severe steroid 21-hydroxylase deficiency followed by confirmatory tests and recommend judicious use of medication during pregnancy and in symptomatic patients with nonclassic CAH. Expand
Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline.
TLDR
A low diagnostic threshold in acutely ill patients, as well as in patients with predisposing factors, is suggested for pregnant women with unexplained persistent nausea, fatigue, and hypotension and a short corticotropin test is recommended as the "gold standard" diagnostic tool to establish the diagnosis. Expand
Puberty-related influences on brain development
TLDR
Neuroimaging data from typically developing children and adolescents and from those with anomalous hormone or sex chromosome profiles are reviewed and synthesized to indirectly assess the effects of puberty-related influences on the underlying neuroanatomy of these behavioral changes. Expand
Clinical characteristics of a cohort of 244 patients with congenital adrenal hyperplasia.
TLDR
Poor hormonal control and adverse outcomes are common in CAH, necessitating new treatments, and routine monitoring of classic children should include measuring BP and plasma renin activity. Expand
Adrenal-derived 11-oxygenated 19-carbon steroids are the dominant androgens in classic 21-hydroxylase deficiency.
TLDR
The data suggest that 11oxC19 steroids are specific biomarkers of adrenal-derived androgen excess, and these steroids are elevated in both men and women with classic 21OHD. Expand
Congenital adrenal hyperplasia
TLDR
Challenges in the treatment of congenital adrenal hyperplasia include avoidance of glucocorticoid overtreatment and control of sex hormone imbalances. Expand
Genetics of Congenital Adrenal Hyperplasia.
TLDR
In this article, the authors provide an in-depth discussion on the genetics of CAH, including genetic diagnosis, molecular analysis, genotype-phenotype relationships, and counseling of patients and their families. Expand
Children with classic congenital adrenal hyperplasia have elevated serum leptin concentrations and insulin resistance: potential clinical implications.
TLDR
Elevated leptin and insulin concentrations in patients with CAH may further enhance adrenal and ovarian androgen production, decrease the therapeutic efficacy of glucocorticoids, and contribute to later development of polycystic ovary syndrome and/or the metabolic syndrome and their complications. Expand
Testicular adrenal rest tissue in congenital adrenal hyperplasia: comparison of MR imaging and sonographic findings.
TLDR
MR imaging and sonography are equally useful in the detection of testicular adrenal rest tissue and because sonography is more accessible to most institutions and is less expensive, it is the imaging technique of choice for the detection. Expand
...
1
2
3
4
5
...