Abstract - 2018 - Research and Practice in Thrombosis and Haemostasis
Shared Decision Making Needed To Diagnose, Treat, And Manage Patients ...
The Endocrine Society today issued a Clinical Practice Guideline that offers best practices for healthcare providers on how to promptly diagnose, treat, and manage patients with congenital adrenal hyperplasia (CAH), an inherited endocrine disorder, throughout their entire lives.
The guideline, titled "Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline," was published online and will appear in the October 2018 print issue of The Journal of Clinical Endocrinology & Metabolism (JCEM), a publication of the Endocrine Society. This is an update of the Society's 2010 Guideline, to reflect newer published data and prospects of advances in diagnosis and treatments. The guideline emphasizes shared decision making among CAH patients, their families, and healthcare professionals when it comes to the medical, surgical, and psychological management of the disorder.
Congenital adrenal hyperplasia (CAH) is an inherited genetic disorder in which the adrenal glands, which make essential hormones for body functions, do not function properly. Classic CAH, which is common enough that it is screened shortly after birth in many countries, may cause life-threatening episodes of shock due to salt-wasting and dehydration. Female infants are usually diagnosed at birth because they have ambiguous genitalia (external sex organs that resemble male genitals). However, they still have normal internal female organs (ovaries and uterus). A male infant with classic CAH usually appears normal at birth, although he may show signs of early puberty.
Non-classic CAH is a milder and more common form of the disorder that may not appear until childhood or adulthood. Symptoms can include early pubic hair growth and acne, masculine characteristics, and infertility. With proper care, people with either type of CAH can live long and healthy lives.
"The management of CAH requires a multi-disciplinary team of experienced healthcare personnel who integrate the endocrine, genetic, gyneco-urologic, reproductive, and mental health aspects of care," said Phyllis W. Speiser, M.D., of the Cohen Children's Medical Center of New York, Northwell Health, and the Zucker Hofstra School of Medicine in New York. Speiser chaired the writing committee that developed the guideline. "Our new guideline stresses the importance of shared decision making between healthcare professionals, patients, and their families when it comes to treatment and the need for ongoing care."
Recommendations from the guideline include:
Congenital Adrenal Hyperplasia - News And Latest Updates
Congenital adrenal hyperplasia (CAH) refers to any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of cortisol from cholesterol by the adrenal glands (steroidogenesis). CAH is one of the possible underlying synthesis problems in Addison's disease. CAH is a genetic disorder in which girls are masculinized because the adrenal glands secrete large amounts of androgen during prenatal development. The extra androgen does not affect a baby boy's physical development, but in baby girls it can enlarge the clitoris so that it resembles a penis. The girls sometimes have surgery during infancy to correct their physical appearance, although this practice is highly controversial, and they can receive hormone therapy to correct the imbalance of androgen. During childhood and adolescence, girls with CAH prefer masculine activities and male playmates to a much greater extent than girls not exposed to these amounts of androgen.
Most of these conditions involve excessive or deficient production of sex steroids and can alter development of primary or secondary sex characteristics in some affected infants, children, or adults.
Researchers Decode Rare Form Of Adrenal Gland Genetic Disorder Linked ...
A complete clinical and genetic profile of a rare inherited disorder, steroid 11βhydroxylase deficiency, which can cause genital masculinization in females, is being reported by an international group of researchers led by investigators at the Icahn School of Medicine at Mount Sinai. This is the first time that the complete genetic profile has been identified.
The findings, published in Proceedings of the National Academy of Sciences, on January 30th, may eventually lead to newborn screening, diagnosis, and treatment. Prenatal diagnosis and treatment may be developed to prevent genital ambiguity.
The disorder is a rare form of congenital adrenal hyperplasia (CAH) resulting in excessive adrenal male hormone secretion caused by deficient secretion of cortisol, a vital steroid hormone. This begins to affect sexual development at approximately 9 weeks of pregnancy and leads to masculization of the genitalia in the female fetus, resulting in genital ambiguity.
"Female infants born with this disorder may be misidentified as males and raised that way. Now that we understand much more about this disorder, we believe it will be possible to prevent an incorrect sex assignment in a fetus and avoid all of the social, cultural, and sexual issues that can come from such an error," says the study's senior investigator, Maria I. New, MD, Professor of Pediatrics, Genetics and Genomic Sciences, and Director of the Adrenal Steroid Disorders Program at the Icahn School of Medicine at Mount Sinai. The study's lead author is Ahmed Khattab, MD, Assistant Professor of Pediatrics at the Icahn School of Medicine at Mount Sinai.
This current study is focused on a rare form of the disorder, 11β-hydroxylase deficiency. Steroid 11β-hydroxylase deficiency affects only 5-8 percent of CAH patients, or 1 in 100,000 live births in the United States. The team collected data on 108 patients diagnosed with the 11β-hydroxylase deficiency. They found that the form occurs most often in countries of the Middle East, Turkey and North Africa and that most of the patients in the study were from Tunisia.
"We propose that consanguineous marriages, such as between first cousins, common in these countries, suggests an explanation for the prevalence of 11β-hydroxylase deficiency in that part of the world," says Dr. New. The disorder is caused by a recessive gene defect, which means that both parents may each carry a normal gene and a mutated gene, but can each pass one copy of the defective gene to the fetus, which is then affected.
Dr. New and her colleagues have fully described the most common form of CAH: steroid 21-hydroxylase enzyme deficiency, responsible for 90-95 percent of all cases. Their previous work has led to newborn screening in the U.S. And in many other countries for the most severe form of 21-hydroxylase deficiency, which involves gene mutations on chromosome 6. Most people affected are from Europe, South America, and Asia.
Dr. New and her team were the first to develop a method that can noninvasively test for genetic mutations starting at 6 weeks of pregnancy by identifying steroid 21-hydroxylase deficiencies circulating in the pregnant mother's blood. Once the diagnosis is made, proper treatment can prevent masculinization of the female fetus in the womb by suppressing adrenal androgen secretion during genital development.
Studying the genotype and clinical profiles of 68 of the patients, the researchers identified the chromosome 8 mutations responsible for the structure of the 11β-hydroxylase enzyme, and examined how each mutation affected the severity of sexual ambiguity in females and other effects of the disorder in both sexes, including hypertension, and advanced skeletal maturation.
"Additionally, males with severe forms of CAH, especially those born in countries that do not have a newborn screening program, may never be recognized as their male genitalia are normal. This study is a significant contribution that gives the endocrine world a detailed description of the genetics and of the clinical spectrum of 11β-hydroxylase deficiency, which is treatable."
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