Resumen
¿Qué son los trastornos del crecimiento?
Growth disorders impact normal tissue growth, and can arise from many causes including malnutrition or poor nutrient absorption, hormone disorders, bone and collagen disorders, or genetic and metabolic diseases. Short stature associated with growth disorders is typically defined as someone who less than the third percentile of average height compared to others of the same age and birth sex. This means they are currently shorter than or projected to be shorter than 97% of their peers. Short stature can also be defined as relative to parental height, or someone who is much shorter than their expected height given their genetic growth potential. Severe short stature, or a projected adult height less than 4’10” tall, can significantly impact activities of daily living, and may require adaptations to perform tasks: such as workplace duties, driving, and household tasks.
Growth disorders with specialty medication treatments include:
- Growth hormone (GH) deficiency and growth-hormone responsive conditions
- Insulin-like growth factor-1 (IGF-1) deficiency
- Achondroplasia
More about Growth Hormone and IGF-1 related conditions:
La hormona del crecimiento se secreta desde la glándula pituitaria anterior, que se encuentra en la base del cerebro. In response to growth hormone, the body releases Insulin-like Growth Factor-1 (IGF-1) to signal tissues to grow.1
Growth hormone-treated disorders could be a result of growth hormone deficiency or could be due to a genetic condition responsive to growth hormone treatment. Growth hormone deficiency could occur in isolation or can also be acquired at any time of life as the result of pituitary damage from brain injury, radiation treatments, brain infection, or tumors. A veces, la deficiencia de la hormona de crecimiento o la estatura baja en respuesta al tratamiento con hormona del crecimiento pueden no tener una causa conocida y mejorar después de la infancia. Some children may continue to be growth hormone deficient as adults, especially if they have other pituitary hormone disorders.
La estatura baja puede ocurrir haya o no deficiencia de la hormona de crecimiento. Examples short stature diagnoses where growth hormone is used include idiopathic short stature and babies born small for gestational age, who do not catch up to average height by age 2. Some congenital causes of short stature that may improve with growth hormone treatment include Turner Syndrome, Russel-Silver Syndrome, Prader-Willi Syndrome, Noonan Syndrome, and SHOX deficiency.
Growth hormone replacement injections may be given until childhood growth stops. In patients with continued growth hormone deficiency, treatment continues into adulthood.
La insensibilidad a la hormona del crecimiento puede ser el resultado de una deficiencia del factor de crecimiento insulínico tipo 1 (IGF-1) This rare diagnosis can cause severe short stature, disproportionate body features, and developmental abnormalities. It can be treated with mecasermin, which is a twice daily injection.2
Due to the potential for abuse and misuse, federal law prohibits dispensing growth hormone for unapproved uses, such as anti-aging or cosmetic treatment, performance enhancement or sports recovery, weight loss, or to boost height in average-height children. Growth hormone does not have a proven benefit for these uses. En algunos estados, la hormona del crecimiento está clasificada como una sustancia controlada para impedir el posible abuso.
More about Achondroplasia:
Achondroplasia is a disorder of bone growth that prevents the changing of cartilage to bone. It occurs as the result of a genetic defect in the fibroblast growth factor receptor type 3 (FGFR3) gene. Most cases occur at random; however those with achondroplasia have a 50% chance of having a child with achondroplasia. Achondroplasia causes severe short stature, disproportionate body features, and complications such as spinal compression, scoliosis, sleep apnea, hearing problems and ear infections.
¿Cuán frecuentes son los trastornos del crecimiento?
Alrededor del 2,5 % de los niños tienen estatura baja. La deficiencia de la hormona de crecimiento se diagnostica y produce en aproximadamente 1:4.000 a 1:10.000 niños. Adult GH deficiency affects approximately 1:100.000 people per year, with approximately 6.000 new adult cases being diagnosed each year in the United States.3
Achondroplasia occurs in 1:20.000 to 1:30.000 live births. It is the most common skeletal disorder leading to severe short stature.4
Questions about your growth disorders therapy?
You can reach the Accredo growth disorders care team, anytime, day or night, seven days a week.
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- 1Cook, David, et al. “American Association of Clinical Endocrinologists medical guidelines for clinical practice for growth hormone use in growth hormone-deficient adults and transition patients-2009 update.” Endocrine practice (2010).
- 2Human Growth Foundation. Epidemiology of Growth Hormone Deficiency. Disponible en: Human Growth Foundation (Fundación para el Crecimiento Humano)
- 3Bamba, Vaneeta. Pediatric Growth Hormone Deficiency Medscape. Última actualización: Dic. 09, 2022.
- 4Pauli, R.M. Achondroplasia: a comprehensive clinical review. Orphanet J Rare Dis 14, 1 (2019).
Síntomas
What are the symptoms of growth disorders?
Childhood-onset Growth Hormone Deficiency:1 2
- rasgos faciales inmaduros,
- micropene,
- erupción dental lenta,
- alargamiento tardío de los huesos largos,
- cabello fino,
- crecimiento deficiente de las uñas,
- obesidad troncal,
- voz chillona,
- episodios de hipoglucemia,
- velocidad de crecimiento lenta,
- pubertad tardía,
- peso bajo al nacer.
Adult-onset Growth Hormone Deficiency:3 4
- aumento relativo en la masa grasa (especialmente abdominal y visceral),
- disminución de la masa muscular,
- disminución de los niveles de energía,
- ansiedad y/o depresión,
- aumento de los niveles de colesterol LDL y triglicéridos.
Achondroplasia:
- Disproportionate short stature, seen at birth
- Shorter limb to trunk ratio
- Decreased muscle tone
- Shortened fingers
- Shortened fingers
- Abnormal flexibility
- Bowed legs with growth
- Abnormal curvature of the spine
- Hearing loss (middle-ear defects)
- Frequent ear infections
- Sleep apnea
¿Cómo se diagnostica?
Medical history including gestational events, family history, and growth charts (in children) are important parts of a growth disorder work up.
Growth hormone deficiency work up also includes x-rays for bone age (in children), lab tests and may include imaging to rule out certain diagnoses. Children with GHD have delayed bone age compared to same-age peers. Laboratory tests may include IGF-1 level, IGFBP-3 level (insulin growth factor binding protein-3), thyroid hormone level, pituitary hormone levels, and tests that stimulate growth hormone release. Growth hormone stimulation tests may take several hours of monitoring and blood draws to assess the body’s ability to release GH.2
- 1Bamba, Vaneeta. Pediatric Growth Hormone Deficiency Medscape. Última actualización: Dic. 09, 2022.
- 2Rieser, Patricia A. Pediatric Growth Hormone Deficiency Human Growth Foundation. Consultado el 19 de febrero de 2018.
- 3Cook, David, et al. “American Association of Clinical Endocrinologists medical guidelines for clinical practice for growth hormone use in growth hormone-deficient adults and transition patients-2009 update.” Endocrine practice (2010).
- 4Human Growth Foundation. (last updated 2015) Epidemiology of Growth Hormone Deficiency. Disponible en: Adult Growth Hormone Deficiency Accessed December 3, 2016.
Medicamentos
Hormona del crecimiento
The following specialty medications are available at Accredo, a specialty pharmacy for Growth Hormone.
Growth Hormone used for growth disorders:
Financiación de su atención
Es posible que haya asistencia financiera disponible para ayudarlo con los costos de sus medicamentos, incluidos programas de los fabricantes y programas comunitarios. Los especialistas de Accredo están disponibles para ayudarlo a encontrar un programa que funcione para usted.
- Programa de ahorros de Genotropin® | 800-645-1280
- Programa de copagos de Humatrope® | 866-923-1953
- Increlex® IPSEN CARES® | 866-435-5677
- Norditropin® NordiSure™ | 888-668-6444
- Programa de tarjeta de copago de Nutropin | 866-688-7674
- Apoyo para copagos de Omnitrope® | 877-456-6794
- Programa de asistencia para copagos de Serostim® | 877-714-2947
- Voxzogo® Assistance at BioMarin Rare Connections™ | 866-906-6100
- Skytrofa ASAP Program | 844-442-7236
- Zomacton ZoGo Support Program 844-944-ZOGO (9646)
Orientación financiera
Los medicamentos de especialidad que salvan vidas pueden ser costosos. Conozca en este video cómo los equipos Accredo ayudan a las personas a encontrar formas de costear el medicamento que necesitan para sobrevivir.
Encuentre apoyo
Growth Disorders Organizations
There are many organizations that support research and advocacy for Growth Disorders. Consulte a continuación algunas de estas organizaciones.
Organizaciones de apoyo
- Organización Nacional de Trastornos Poco Frecuentes (National Organization for Rare Disorders, NORD)
- Child Growth Foundation
- Human Growth Foundation (Fundación para el Crecimiento Humano)
- MAGIC Foundation
- Little People of America| 714-368-3689
Organizaciones gubernamentales
Conozca al equipo
Accredo’s Growth disorders team is dedicated to serving you and we understand the complexity of your condition. Nuestros médicos clínicos con formación especializada están disponibles las 24 horas al día, los siete días de la semana, para responder cualquier pregunta.
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