The document provides a comprehensive overview of delayed puberty, including its definition, epidemiology, risk factors, aetiology, clinical features, and diagnostic approaches. It outlines the importance of understanding the physical and psychological impacts on affected individuals, as well as the necessity of tailored treatment plans based on underlying causes. The document emphasizes the significance of ongoing monitoring and support for those experiencing delayed puberty.

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
cont…
• 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, gliom
a, 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 cont…
• Feel 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
• Thyroid 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
• Keep 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
1. Compare Delayed puberty and
Precocious puberty
2. 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 – 19th Edition
• DC Dutta’s Textbook of Obstetrics and
Gynaecology – 9th Edition