El síndrome de Turner: más que solo crecimiento lento en niñas

Production: Chinese Popular Science

Author: Mai Bo, Liu Wenqin

Producer: Guangdong Provincial Association for Science and Technology

Have you heard of Turner syndrome? Dr. Liang Liyang from Sun Yat-sen Memorial Hospital of Zhongshan University points out that Turner syndrome is a rare condition that not only causes growth delay in childhood and late puberty development but can also be associated with features such as webbed neck, valgus elbows, and multiple nevi on the face, requiring lifelong management.

Turner syndrome is not simply "slow growth".

Patient: "I am a mother. My daughter has been shorter than her peers since she was 3 years old and at 12 she still hasn’t developed. We have been to several hospitals; some said 'wait a little longer', others 'maybe she is just short'. Until I arrived at Sun Yat-sen Memorial Hospital, I realized there is a rare condition called Turner syndrome."

Liang Liyang, the director of the pediatric neurology and endocrinology department, explains that Turner syndrome is a congenital condition caused by total or partial loss of the X chromosome, with an incidence of approximately 1 in 2500. This condition is not limited to just being 'short'; it affects multiple systems. It can not only lead to growth delay in childhood and delayed puberty development but can also be accompanied by features such as skin tags on the neck, cubitus valgus, and multiple nevi on the face, requiring lifelong management.

From the day of her diagnosis, the girl began regular treatment with recombinant growth hormone, and her height, which was previously stagnant, started to improve gradually, narrowing the gap with her peers. With the onset of puberty, a multidisciplinary team from the hospital intervened collaboratively, designing a scientifically-based hormone replacement plan that gently helped her to initiate her pubertal development, thereby completing her transition from girlhood to adolescence.

Warm advice for every Turner syndrome family: Dear Turner syndrome families, your journey is unique and full of challenges, often feeling lonely and helpless. Here, we would like to share some advice that we hope will bring you warmth and support. 1. Establish a support network: Connect with other Turner syndrome families, join relevant support groups or online communities to share experiences and feelings, and encourage each other. 2. Maintain open communication: Have open and honest conversations with your child, helping her understand her condition and encouraging her to express her feelings and concerns. 3. Education and resources: Understand the relevant knowledge about Turner syndrome, actively seek professional medical support, focus on psychological and emotional health, and ensure your child receives comprehensive education and growth opportunities. 4. Celebrate small achievements: Recognize and encourage your child in any progress, be it academic, social, or otherwise, to enhance her self-confidence. 5. Focus on mental health: Help your child establish a positive self-image, consider her emotional needs, and seek professional psychological counseling when necessary. 6. Cultivate hobbies: Encourage your child to participate in various activities to develop personal interests, helping her make friends and enhance social skills. 7. Patience and love: Remember that family love is the most important pillar; give your child enough understanding and patience, facing life's challenges together. Please believe that you are not alone; many families are experiencing similar journeys. Together, we can create a warm and supportive environment to help our children grow healthily and happily. May every day be filled with hope and love. Warm blessings, [Your Name]

Early detection and diagnosis are crucial: if a child exhibits growth delay or late puberty development, it is essential to conduct a karyotype analysis as soon as possible, without missing the best opportunity for intervention.

Multidisciplinary management: Turner syndrome affects multiple systems such as height, hearing, heart, kidneys, and the skeletal system, making it essential to maintain collaboration among various specialties and lifelong management.

Psychological support is indispensable: along the growth journey, concerns about height, development, and social life require understanding, acceptance, and encouragement from family, hospitals, and society.

Normative treatment, promising future: through therapy with growth hormones and sex hormones, as well as comprehensive health management, the vast majority of children with Turner syndrome can lead normal lives regarding learning, work, and daily life.

Content from: Guangdong Provincial Association for Science and Technology.

Resource content provided by the project unit.