Faltering Growth

Question 1

Define

Answer 1

Most common cause in boys due to CDGP (Constitutional Delay of Growth and Puberty)

· Growth faltering and referral:

o If ≥75th centile, only refer once the centile drops ≥3 3

o If 25th – 75th centile, only refer once centile drops by ≥2 2

o If <25th centile, refer once centile drops by ≥1 1

· Delayed puberty = absence of pubertal development by…

o Males, no testicular development (volume ≤4mL) by age 14 years

o Females, no breast development by age 13 years OR Females, no periods by age 15 years

Question 2

Aetiology

Answer 2

Aetiology of delayed puberty:

o Functional (most commonly):

§ Constitutional Delay of Growth and Puberty (GDGP; commonest in boys)

· S/S: low bone age, no puberty signs, no organic causes

· FHx; M > F – usually FHx of same delay in parent of same sex

§ Chronic disease, malnutrition

§ Psychiatric – excessive exercise, depression, anorexia nervosa

o Hypogonadotrophic (low LH and FSH) hypogonadism:

§ Hypothalamo-pituitary disorders – panhypopituitarism, intercranial tumours

§ Kallmann’s syndrome (LHRH deficiency and anosmia), Prader-Willi syndrome

§ Hypothyroidism (acquired)

o Hypergonadotrophic (high LH and FSH) hypogonadism:

§ Congenital – cryptorchidism, Klienfelter’s syndrome (47 XXY), Turner’s syndrome (45 XO)

§ Acquired – testicular torsion, chemotherapy, infection, trauma, autoimmune

Question 3

Investigations

Answer 3

Initial examination:

§ Charting (Height and weight plots, mid-parental height) and note dysmorphic features

§ Prader’s orchidometer (see picture) for boys; Tanner’s staging for girls

o Bloods:

§ Gonadotrophin-dependant vs independent à LH and FSH levels (GnRH stimulation given if <12yo)

§ TSH, prolactin, testosterone

o Imaging à bone age (from wrist X-ray), MRI brain

o Karyotyping

Androgen Insensitivity N.B. delayed puberty in a ‘girl’ with bilateral groin swellings are undescended testicles (genotype = XY; phenotype = XX)

Question 4

Management

Answer 4

1. CDGP [most do not need treatment; fantastic prognosis]:

1st line: reassure and offer observation

2nd line: short course sex hormone therapy:

· Boys -> short course IM testosterone (every 6 weeks for 6 months)

· Girls -> transdermal oestrogen (6 months) à cyclical progesterone once established

2. Primary testicular / ovarian failure – pubertal induction -> regular hormone replacement:

Boys: regular testosterone injections

Girls: oestrogen replacement (gradual to avoid premature fusion of epiphyses / overdeveloped breasts)

o Address psychosocial concerns