Endocrine. Joe O Neil, MD, Chair

Transcription

1 Endocrine Joe O Neil, MD, Chair

2 Definitions Endocrine Section is comprised of 3 parts: Precocious Puberty Short Stature and Effect of Growth Hormone Obesity

3 Puberty Definitions Puberty is defined as presence of secondary sexual characteristics. For girls, breast development, and for boys enlargement of the penis and testicles. Precocious puberty is defined as the onset of puberty before age eight years in girls and 9 years in boys. Children, especially girls with spina bifida and hydrocephalus are at a higher risk to have precocious puberty compared to typical girls. Most likely due to the hydrocephalus stimulating the brain to release signals in the blood to start puberty early.

4 Precocious Puberty Outcomes Primary outcome: Timely assessment, identification, appropriate referral, and management of precocious puberty. Secondary outcome: Decrease risk of unwanted consequences of precocious puberty among children with spina bifida.

5 Prenatal/Infancy (through age 1 year) Clinical Questions Does the infant show any signs of early puberty? Guidelines 1. At every well child visit, close monitoring of weight and height velocity should be obtained and documented. 2. A complete physical exam including genitalia should be performed at each visit. 3. Document all positive and negative findings of the physical exam. 4. Discuss with the parents or caregivers outcomes of evaluation and ask if the family has any concerns. 5. If abnormal signs of puberty are observed consider a referral to an endocrinologists.

6 Toddler (1-3 years) Clinical Question Does the toddler show any signs of early puberty? Guidelines 1. At every well child visit, close monitoring of weight and height velocity should be obtained and documented. 2. A complete physical exam including genitalia should be performed at each visit. 3. Document all positive and negative findings of the physical exam. 4. Discuss with the parents or caregivers outcomes of evaluation and ask if the family has any concerns. 5. If abnormal signs of puberty are observed consider a referral to an endocrinologists.

7 Preschool (3-5 years) Clinical Question Does the young child show any signs of early puberty? Guidelines 1. At every well child visit, close monitoring of weight and height velocity should be obtained and documented. 2. A complete physical exam including genitalia should be performed at each visit. 3. Document all positive and negative findings of the physical exam. 4. Discuss with the parents or caregivers outcomes of evaluation and ask if the family has any concerns. 5. If abnormal signs of puberty are observed consider a referral to an endocrinologists.

8 School Age Clinical Questions 1. Does the child show any signs of puberty? 2. Is the child of an age where puberty should begin? 3. Do the parents have any concerns about the child s growth and development? 4. Does the child have any concerns about their growth or development?

9 School Age Guidelines 1. At every well child visit, close monitoring of weight and height velocity should be obtained and documented. 2. A complete physical exam including genitalia should be performed at each visit. 3. Document all positive and negative findings of the physical exam with the parent or caregiver. 4. Discuss with the parents or caregivers outcomes of evaluation and ask if the family has any concerns. 5. If there is clear evidence of abnormal timing, tempo, or sequence of pubertal development, the patient should be referred to a pediatric endocrinologist. 6. If the child is having psychosocial issues with their growth or development a referral to a mental health professional should be considered.

10 Teenage Clinical Questions 1. Is the child of an age where puberty should have begun? 2. Do the parents have any concerns about the child s growth and development? 3. Does the child have any concerns about their growth or development?

11 Teenage Guidelines 1. At every Health Maintenance Visit, close monitoring of weight and height velocity should be obtained and documented. 2. A complete physical exam including genitalia should be performed at each visit. 3. Document all positive and negative findings of the physical exam with the parent or caregiver. 4. Discuss with the parents or caregivers or patient outcomes of evaluation and ask if the family or patient has any concerns. 5. If there is clear evidence of abnormal timing, tempo, or sequence of pubertal development, the patient should be referred to a pediatric endocrinologist. 6. If the adolescent is having psychosocial issues with their growth or development a referral to a mental health professional should be considered.

12 Adult Clinical Questions Does the patient or caregiver have any concerns about sexual development or function? Guidelines 1. A complete physical exam including genitalia should be performed at each visit. 2. Document all positive and negative findings of the physical exam with the patient or caregiver. 3. Discuss with the patient or caregivers outcomes of evaluation and ask if the family or patient has any concerns. 4. If the patient is having psychosocial issues with their growth or development a referral to a mental health professional should be considered. 5. Male sexual health issues should be discussed and appropriate referrals made to urology or other subspecialists.

13 Research Gaps What effect does precocious puberty have on psychological development of an individual with spina bifida? Is there an optimal age to intervene when precocious puberty is identified? What can the primary provider do in the office to evaluate precocious puberty in a child with spina bifida?

14 Short Stature and Growth Hormone Outcomes Primary outcomes Improve linear growth to improve distribution of adipose tissue. Reduce BMI with goal to decrease rate of obesity among individuals with SB. Secondary outcomes Improve quality of life by improving strength, mobility, body image, and health. Reduce morbidity and mortality secondary to obesity. Tertiary outcomes Improve quality of life by decreasing need for obesity-related illnesses and interventions.

15 Prenatal/Infancy (through age 1 year) Clinical Questions 1. At what age do pituitary-hypothalamic hormones become affected by Chiari malformation, hydrocephalus, or placement of shunts? 2. Could growth during infancy and toddler years be improved by use of HGH? 3. Does the use of HGH worsen other comorbidities associated with SB? (tethering< scoliosis, muscle tightness, etc) 4. What and when are the appropriate evaluations for use of HGH?

16 Prenatal/Infancy (through age 1 year) Guidelines 1. Frequent and accurate weight, length, and OFC measurements during infancy 2. Referrals to physical therapy to maximize range of motion, strength, and functional mobility as appropriate for developmental age. 3. Encourage breast feeding and appropriate nutrition. 4. Discuss with the family issues surrounding growth of children with SB.

17 Toddler (1-3 years) Clinical Questions 1. While linear growth is impacted by effects of the myelomeningocele, at which age does the length become most affected (toddler years, prepubertal growth spurt, puberty)? 2. At what age is the short stature evaluated initiated? 3. Who should do the evaluation, and where should the evaluation be conducted? 4. Which parameters best predict a positive response to HGH? 5. Is HGH only indicated where a growth hormone deficiency is identified? 6. Who should cover the cost of HGH?

18 Toddler (1-3 years) Clinical Questions 7. Are there any limitations regarding who would be eligible: normal development, shortened arm span, minimal skeletal deformities, level of spinal lesion, amount of paresis, syringomyelia, tethered cord, scoliosis, vertebral anomalies, contractures or advanced pubertal development, with or without documented growth hormone deficiency? 8. Does HGH improve lipid or bone metabolism? 9. Does HGH result in a positive change in adult height sufficient to show improved self-esteem, reduced obesity, better muscle strength, bond density, and rehabilitation potential?

19 Toddler (1-3 years) Guidelines 1. Frequent assessment of growth velocity is recommended. 2. Discussions with the family of the expected height of the child considering the limitations due to myelomeningocele and the expected height based on parent s height. 3. Discussion of the risks and benefits of GH therapy. 4. Referral to endocrinologist for growth assessment, IGH-1, IGH Binding protein 3, and GH stimulation test. 5. Monitoring pituitary function, scoliosis, tethering of spinal cord, growth velocity, and pubertal development.

20 Preschool (3-5 years) Same as Toddler

21 School Age Same as Toddler

22 Teenage No content

23 Adult No content

24 Research Gaps While linear growth is impacted by effects of the myelomeningocele, at which age does the length become most affected (toddler years, prepubertal growth spurt, puberty)? At what age is the short stature evaluated initiated? Does HGH improve lipid or bone metabolism? Does HGH result in a positive change in adult height sufficient to show improved self-esteem, reduced obesity, better muscle strength, bond density, and rehabilitation potential?

25 Obesity Outcomes Primary outcome: prevention of obesity in children with spina bifida Secondary outcome: decrease risk for metabolic syndrome components related to obesity Tertiary outcome: health promotion for children and adolescents with spina bifida

26 Prenatal/Infancy (through age 1 year) Clinical Questions 1. Is there evidence that obesity is more common in children with spina bifida? And are those children at higher risk for metabolic syndrome? 2. Should screening for metabolic complications of obesity be performed in children and adolescents with spina bifida? 3. Is there evidence to support the role of weight management intervention in the prevention of metabolic syndrome?

27 Prenatal/Infancy (through age 1 year) Guidelines 1. Frequent and accurate weight, length, and OFC measurements during infancy 2. Referrals to physical therapy to maximize range of motion, strength, and functional mobility as appropriate for developmental age. 3. Encourage breast feeding and appropriate nutrition. 4. Discuss with the family issues surrounding growth of children with SB.

28 Toddler (1-3 years) Same as Infancy

29 Preschool (3-5 years) Clinical Questions 1. Is there evidence that obesity is more common in children with spina bifida? And are those children at higher risk for metabolic syndrome? 2. Should screening for metabolic complications of obesity be performed in children and adolescents with spina bifida? 3. Is there evidence to support the role of weight management intervention in the prevention of metabolic syndrome?

30 Preschool (3-5 years) Guidelines 1. Frequent assessment of growth velocity is recommended. 2. Discussions with the family of the importance of diet in maintaining a healthy lifestyle. 3. Referral to dietician for assessment of nutritional status and diet. 4. Monitoring weight and growth parameters to follow response to dietary changes 5. Referral to physical therapist or athletic trainer with experience or training in proper exercise for individuals with physical or cognitive limitations

31 Preschool (3-5 years) Guidelines 6. Screening for diabetes should be performed in children over 10 years of age (or at the onset of puberty if it occurs at a younger age) who are overweight or obese and have two or more additional risk factors (family history of T2DM in a first- or second-degree relative, high-risk ethnicity, acanthosis nigricans or PCOS). 7. Screening for dyslipidemia for children of ages 9 and above with a BMI 85th percentile or other risk factors for cardiovascular disease (family history of dyslipidemia/early cardiovascular disease and/or morbidity in first- or seconddegree relatives, history of diabetes, hypertension, or smoking in childhood)

32 School Age Same as Preschool

33 Teenage Clinical Questions 1. Is there evidence that obesity is more common in children with spina bifida? And are those children at higher risk for metabolic syndrome? 2. Should screening for metabolic complications of obesity be performed in children and adolescents with spina bifida? 3. Is there evidence to support the role of weight management intervention in the prevention of metabolic syndrome?

34 Teenage Guidelines 1. Annual assessment of weight, height or arm span, and BMI 2. Discussions with the family of the importance of diet in maintaining a healthy lifestyle. 3. Referral to dietician for assessment of nutritional status and diet. 4. Monitoring weight and growth parameters to follow response to dietary changes 5. Referral to physical therapist or athletic trainer with experience or training in proper exercise for individuals with physical or cognitive limitations 6. Screen for diabetes and dyslipidemia

35 Adult Same as Teenage

36 Research Gaps Is there evidence that obesity is more common in children with spina bifida? And are those children at higher risk for metabolic syndrome? Should screening for metabolic complications of obesity be performed in children and adolescents with spina bifida? Is there evidence to support the role of weight management intervention in the prevention of metabolic syndrome? (note that these are the same as the clinical questions)

37 Puberty References 1. Muir A. Precocious puberty. Pediatrics in Review. 2006;27: Zacharin M. Endocrine Problems in Children and Adolescents who have Disabilities. Hormone Research in Pediatrics. 2013; 80: Sandberg DE, Colsman M, Voss LD. Short stature and quality of life: A review of assumptions and evidence. In: Pescovitz OH, Eugster E, eds. Pediatric Endocrinology: Mechanisms, Manifestations, and Management. Philadelphia, PA: Lippincourt, Williams & Wilkins: 2004, Pediatrics and the Psychosocial Aspect of Child and Family Health. Committee on Psychosocial Aspects of Child and Family Health. Pediatrics. 1982;70: Sandberg D. Short stature: a psychosocial burden requiring growth hormone therapy? Pediatrics. 1994;94: Dahl M, Proos LA, Ahlsten G, Tuvemo T, Gustafsson J. Early puberty in boys with myelomeningocele. Eur J Pediatr Surg. 1997; Dec: 7 Suppl Proos LA, Dahl M, Ahlsten G, Tuvemo T, Gustafsson J. Increased perinatal intracranial pressure and prediction of early puberty in girls with myelomeningocele. Arch Dis Child Jul;75(1):42-5.

38 Short Stature/GH References 1. Green SA, Frank M, Zackman M, Prader A. Growth and sexual development of children with myelomeningocele. Eur J. Pediatr. 1985; 144: Dural-Beaupere G, Kaci M, Lougouoy S, Caponi MF, Touzeau C. Growth of trunk and legs in children with Myelomeningocele. Development in Medicine, Child Neurology 1987; 29: Lopponen T, Saukhonen AL, Serlo W, Tapanainen P, Ruokonem A, Krup M. Reduced levels of growth hormone, insulin-like growth hormone, insulin-growth factor-1, and binding protein-3 in patients with shunted hydrocephalus. Archieves of Diseases in Childhood. 1997; 77: Trollman R, Dorr HG, Groschul M, Blum WF, Rascher W, Dotsch J. Spontaneous nocturnal leptin secretion in children with myelomeningocele and growth hormone deficiency. Hormone Research 58(3): 115-9, Rotenstein D, Bass AN. Treatment to near adult stature of patients with myelomeningocele with recombinant human growth hormone. Journal of Pediatric Endocrinology. 17(9): Sep. 6. Trollman R, Strehl E, Wenzel D, Dorr HG. Does growth hormone enhance growth in growth hormone deficient children with myelomeningocele? Journal of Clinical Endocrinology and Metabolism. 85(8): Aug. 7. Rotenstein D, Reigel DH, Lucke JF. Growth Hormone-treated and nontreated children before and after tether cord release. Pediatric Neurosurgery, 24(5): , Rotenstein D, Breen TJ. Growth Hormone treatment of children with meningomyelocele. Journal of Pediatrics. 128(5, pt. 2) , 1996 May.

39 Obesity References 1. Buffart LM, Roebroeck ME, Mathilde R, et.al. Triad of physical activity, aerobic fitness and obesity in adolescents and young adults with myelomeningocele. J Rehabil Med 2008; 40: Pediatric guidelines 3. Jensen MD, Ryan DH, Apovian CM, Ard JD, Comuzzie AG, Donato KA, Hu FB, Hubbard VS, Jakicic JM, Kushmer RF, Loria C, Milen BE, Nonas CA, Pi-Sunyer FX, Stevens J, Stevens VJ, Wadden TA, Wolfe BM, Yanovski SZ AHA/ACC/TOS guideline for the management of overweight and obese adults: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines and the Obesity Society. Circulation. 2013; 00: