Why do some kids with a rare genetic condition have hormone problems?
Empty sellae, impaired testosterone secretion, and defective hypothalamic-pituitary growth and gonadal axes in children with Bardet-Biedl syndrome.
Not medical advice. For informational purposes only. Always consult a healthcare professional. Terms
Surprising Findings
Primary hypogonadism may co-occur with brain-based hormone center abnormalities in a genetic syndrome thought to mainly affect the gonads.
Primary hypogonadism typically points to testicular failure alone, but the presence of hypothalamic and pituitary issues suggests a more complex, multi-level disruption than expected.
Practical Takeaways
Children with Bardet-Biedl syndrome should receive comprehensive endocrine evaluations, including brain imaging and hormone testing, to assess both gonadal and central causes of growth and puberty issues.
Not medical advice. For informational purposes only. Always consult a healthcare professional. Terms
Surprising Findings
Primary hypogonadism may co-occur with brain-based hormone center abnormalities in a genetic syndrome thought to mainly affect the gonads.
Primary hypogonadism typically points to testicular failure alone, but the presence of hypothalamic and pituitary issues suggests a more complex, multi-level disruption than expected.
Practical Takeaways
Children with Bardet-Biedl syndrome should receive comprehensive endocrine evaluations, including brain imaging and hormone testing, to assess both gonadal and central causes of growth and puberty issues.
Publication
Journal
Metabolism: clinical and experimental
Year
1996
Authors
Ashraf T. Soliman, A. Rajab, I. Alsalmi, M. Asfour
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Claims (4)
Kids with a rare condition called Bardet-Biedl syndrome often don’t grow as tall as other kids their age.
Kids with a rare genetic condition called Bardet-Biedl syndrome sometimes have underactive sex glands, and this might be linked to issues in the brain's hormone control center — meaning their body's hormone system could be involved in how the condition shows up.
Kids with a rare genetic condition called Bardet-Biedl syndrome have sometimes been found to have a change in the brain area that holds the pituitary gland, which might mean the structure isn't forming normally.
Kids with a rare condition called Bardet-Biedl syndrome seem to have problems in a brain-body system that controls sex hormones, which might explain why their testosterone levels are low.