Articles related to Medical Genetics

A new Endocrine Society guideline favors watchful waiting over immediate evaluation for many girls with early breast development, narrows brain MRI and genetic testing to select cases, and sets age limits for stopping GnRH agonist therapy.

A new analytical framework applied to 30,000+ parent-child trios found that uninherited parental genes shape children’s height, BMI, and academic performance to a degree approaching the influence of children’s own DNA.

A laboratory study suggests it may be possible to selectively silence an extra chromosome in Down syndrome cells, offering a glimpse into future genetic approaches rather than a near‑term treatment.

“Families and health care professionals now have the option to consider a once-weekly growth hormone as treatment with 313 injection free days per year for their children 2.5 years and older with ISS, NS, and born SGA,” said Dr Aristides Maniatis, Founder, Rocky Mountain Pediatric Endocrinology.

“Delay in diagnosis will result in delay in amplification, with subsequent delay in language and even cognitive development.” — Julie Wei, MD, Akron Children’s Hospital

“When it is proven to be safe, durable, deliverable in young children, and clearly improves long-term communication outcomes, not just hearing thresholds, then it becomes a routine referral.” — Julie Wei, MD, Akron Children’s Hospital