Delayed Puberty and Developmental milostones.pptx

Delayed Puberty and developmental milestones

1. DELAYED PUBERTY AND DEVELOPMENT DR.SHABAN

2. Learning Objectives By the end of this session, a student is expected to learn the following; Definition of Delayed puberty Explain aetiology/risk factors of Delayed puberty Outline epidemiology of Delayed puberty Explain clinical features of Delayed puberty Establish provisional and differential diagnosis of Delayed puberty Provide pre-referral treatment Delayed puberty Provide appropriate supportive care for Delayed puberty Provide counselling and follow-up services of Delayed puberty

3. Definitions Child development The increase in the complexity of structures and of their functions (what a child can do ) Puberty refers to a period of rapid physical changes of a child’s body into adult body to attain ability to reproduce sexually

4. Definitions cont… Delayed Puberty: Is when a person lacks or has incomplete development of specific sexual characteristics past the usual age of onset of puberty Girls are considered to have delayed puberty if they lack breast development by age 13 or have not started menstruating by age 16 Boys are considered to have delayed puberty if they lack enlargement of the testicles by age 14

5. Epidemiology of Delayed Puberty Delayed puberty affects about 2% of adolescents Many as half of girls with delayed puberty have an underlying pathology It has no racial bias

6. Risk Factors of Delayed Puberty Parents or siblings with delayed puberty Genetics abnormalities/Congenital syndrome(s) Socioeconomic status Environmental exposures – radiations, infections, chemotherapy Eating disorders Stress Excessive exercises

7. Aetiology of Delayed Puberty Constitutional and physiologic delay – in over 90% of cases Malnutrition Eating disorders such as bulimia nervosa and anorexia nervosa Chronic disease Diabetes mellitus Type I, sickle cell disease  and  thalassemia,  cystic fibrosis ,  HIV/AIDS ,  hypothyroidism,   cancer/ cancer therpy , chronic kidney disease,  coeliac disease , inflammatory bowel disease - principally Crohn's disease

8. Aetiology of Delayed Puberty c ont … Primary failure of the ovaries or testes ( hypergonadotropic hypogonadism ) Congenital disorders: Cryptochidism , Klinefelter syndrome, Noonan syndrome, Turner syndrome (most common cause in girls), XX gonadal dysgenesis , and XY gonadal dysgenesis , aromatase deficiency or Müllerian agenesis Acquired disorders: mumps  orchitis ,  Coxsackievirus  B infection, irradiation, chemotherapy, or trauma Defect of the hormonal pathway of puberty ( hypogonadotropic hypogonadism ) Craniopharyngioma ,  prolactinoma ,  germinoma ,  glioma , Prader-Willi syndrome and Kallmann syndrome

9. Clinical Features of Delayed Puberty Girls No breast development by age 13 Lack of menstruation by age 15-16 No pubic hairs by age14 years A time lapse of more than 5 years from the beginning of breast growth to the first menstrual period Boys No testicular enlargement by age of 14 No pubic hairs by 15 yrs A time lapse of more than 5 years from the start to the completion of growth of the genitals

10. Clinical Features of Delayed Puberty c ont … F eel psychologic stress and embarrassment Webbed neck, short stature, shield chest, and low hairline. Klinefelter syndrome presents with tall stature as well as small, firm testes Fatigue , pain, and abnormal stooling pattern Low body mass index (weight and height, MUAC, OFC) Cleft lip/palate, scoliosis

11. Complications Infertility Emotional stress and embarrassment

12. Diagnosis Formulation Complete medical history is important in establishing growth pattern as well as in looking for possible disease condition leading to delayed puberty Physical examination is also key This has to be coupled with laboratory investigations and imaging Together, all these will reveal most of the systemic diseases and conditions capable of arresting development or delaying puberty, as well as providing clues to some of the recognizable  syndrome(s)  affecting the reproductive system

13. Investigations for Delayed Puberty Karyotyping to identify chromosomal abnormalities such as Turner syndrome and Klinefelter syndrome Serum 17-hydroxylase level - involved in the production of sex hormones Serum  FSH, LH, testosterone/estradiol, Bone age radiography Serum prolactin level Complete blood count Erythrocyte sedimentation rate, CRP T hyroid studies – TSH, T4 and T3 level Others: MRI/CT scan, Bone age X ray, USS

14. Pre-referral Treatment If the delay is due to systemic disease or malnutrition, the therapeutic intervention is likely to focus on those conditions and supplementation of both vitamin A and iron to normal constitutionally delayed children with subnormal vitamin A intake Counseling is also important to both client and parents/care-taker In patients with coeliac disease, an early diagnosis and the establishment of a gluten-free diet prevents long-term complications and allows restoration of normal maturation However, all these measures should not delay referral for proper management of the condition

15. Definitive Treatment If it becomes clear that there is a permanent defect of the reproductive system, treatment usually involves replacement of the appropriate hormones such as; IM testosterone enathate / dihydrotestosterone 50mg OD/month for boys for 4 to 6 months Estradiol and progesterone patches for girls for 4–6 months to start breast development. Treat underlying cause(s) Gluten-free diet Thyroid hormone therapy Growth hormone  for idiopathic short stature Surgery may be needed to remove tumors, and these children are at risk of hypopituitarism.

16. Follow up Bone age must be monitored frequently to prevent precocious closure of the bone plates K eep track of patient’s progress toward puberty - occurrence of secondary sexual characteristics

17. Key Points Delayed Puberty Is when a person lacks or has incomplete development of specific sexual characteristics past the usual age of onset of puberty Most often, children simply develop later than their peers but ultimately develop normally Presentation of Delayed Puberty is sex specific. Typical symptoms include a lack of testicular enlargement in boys and a lack of breasts and menstrual periods in girls

18. Key Points cont… The diagnosis is based on the results of a physical examination, various laboratory tests, a bone age x-ray, and, if needed, a chromosomal analysis and magnetic resonance imaging Treatment depends on the cause and may include hormone replacement therapy. Counseling is also important to both client and parents/care-taker

19. Evaluation Compare Delayed puberty and Precocious puberty Outline five (5) pre-referral treatment plans for patient diagnosed to have delayed puberty.

20. References Coovadia H.M,(1999) Paediatric & Child Health a Manual for Health Professionals in the third World. Nelson Textbook of Paediatrics – 19 th Edition DC Dutta’s Textbook of Obstetrics and Gynaecology – 9 th Edition