Abnormal puberty Flashcards

1
Q

What defines precocious puberty

A

Development of secondary sexual characteristics before:
- 8 years in females (more common)
- 9 years in males

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2
Q

What is thelarche, adrenarche and menarche

A

Thelarche = the first stage of breast development
Adrenarche = the first stage of pubic hair development
Menarche = onset of the first menstrual period

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3
Q

What are the types of (causes of) precocious puberty and what are the difference between them

A

Gonadotrophin dependent
- Premature activation of the hypothalamic-pituitary-gonadal axis
- FSH/LH raised
- Consonant sequence of development (normal)

Gonadotrophin independent
- Due to excess sex hormone production (NOT in pituitary gland)
- FSH/LH low
- Dissonant sequence of development (abnormal)

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4
Q

What are the causes of precocious puberty in girls

A

Usually idiopathic or familial and follows normal sequence of puberty

Gonadotrophin-dependent:
- Trauma, brain injury, hydrocephalus, irradiation, infection, tumours
- Cerebral palsy
- Pituitary adenoma

Gonadotrophin independent:
- Adrenal – Congenital adrenal hyperplasia, Cushing’s syndrome
- Tumours – b-hCG-secreting tumour of liver, tumours of ovary, testes, adrenals
- McCune-Albright syndrome
- Exogenous hormones – COCP, testosterone gels
- Ovarian – follicular cyst, granulosa cell tumour, Leydig cell tumour, gonadoblastoma

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5
Q

What is McCune-Albright syndrome, what are the clinical features and how is it treated

A

a multiple endocrinopathy of thyrotoxicosis, Cushing’s, acromegaly
S/S: polyostotic fibrous dysplasia, café-au-lait spots, ovarian cysts, precocious puberty

Mx: cyproterone acetate (antiandrogenic progestogen)

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6
Q

What investigations should be done for precocious puberty in girls

A

Bloods: LH/FSH, oestradiol, testosterone
Other: pelvic US, MRI brain, gonadotrophin stimulation test

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7
Q

What are the causes of precocious puberty in boys

A

Uncommon and usually has an organic cause (The testes are relatively insensitive to secretion of gonadotrophins from the pituitary gland)

Gonadotrophin-dependent:
- Trauma, brain injury, hydrocephalus, irradiation, infection, tumours
- Cerebral palsy
- Pituitary adenoma

Gonadotrophin independent:
- Adrenal – Congenital adrenal hyperplasia, Cushing’s syndrome
- Tumours – b-hCG-secreting tumour of liver, tumours of ovary, testes, adrenals
- McCune-Albright syndrome
- Exogenous hormones – COCP, testosterone gels
- Ovarian – Leydig cell tumour, testotoxicosis

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8
Q

What investigations should be done for precocious puberty in boys

A

Bedside: testicular exam
Other: MRI brain, gonadotrophin stimulation test

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9
Q

What does testes size on examination suggest for precocious puberty

A

Bilateral enlargement = gonadotrophin release from intracranial lesion
Unilateral enlargement = gonadal tumour
Small testes = adrenal cause (tumour or adrenal hyperplasia)

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10
Q

What is the management for precocious puberty

A
  1. Refer to paediatric endocrinologist
    Detect and treat of any underlying pathology
    Assess bone age and reduce rate of skeletal maturation if bone age is accelerating
    Delaying puberty: Gonadotrophin-releasing hormone analogues e.g. leuprolide
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11
Q

Describe premature thelarche

A

Girls 6 months-2 years
Breast enlargement may be asymmetrical and fluctuate in size
Rarely progresses beyond stage 3 of puberty
Other features of puberty and accelerate growth is ABSENT (differentiates from gonadotrophin-dependent precocious puberty)
Investigations not required

Note: high maternal prolactin can cause newborn babies to be born with breast buds that may lactate → self-resolves in days

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12
Q

What are the causes of gynaecomastia

A

Klinefelter’s
Familial
Oestrogen-secreting tumours
Drugs - oestrogen, spironolactone, marijuana

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13
Q

What is premature adrenarche and what investigations should be done

A

sensitivity to androgen production by the adrenal gland from 6-8 years

USS- ovaries and uterus (girls risk of developing PCOS)
Bone age assessment
Urinary steroid profile- rule out CA Hot adrenal tumour

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14
Q

What defines delayed puberty

A

Absence of pubertal development by:
13 years in girls
14 years in boys (more common)

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15
Q

What are the causes of delayed puberty

A

Constitutional delay of growth and puberty/familial (most common in boys)

Low gonadotrophin (hypogonadotropic hypogonadism):
Systemic illness: CF, severe asthma, Crohn’s disease, organ dysfunction, anorexia nervosa, starvation, excess physical training
Hypothalamo-pituitary: pituitary dysfunction, gonadotrophin or GH deficiency, craniopharyngiomas, Kallman syndrome, Prader-Willi

High gonadotrophin (hypergonadotropic hypogonadism):
Chromosomal: Klinefelter’s, turner’s
Acquired: post-surgery, chemotherapy, radiotherapy, trauma, testicular torsion, autoimmune disorder
Androgen insensitivity syndrome
5a-reductase deficiency

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16
Q

Describe Constitutional delay of growth and puberty

A

Short during childhood
Delay in sexual maturation
Delayed skeletal maturity on bone age
Legs will be long in comparison to back (eunuchoid body habitus)
Eventually the target height will be reached as growth will continue for longer than their peers

17
Q

How is Constitutional delay of growth and puberty staged

A

height and weight plots, mid-parental height + dysmorphic features
+ Tanner’s breast staging OR Prader’s orchidometer

18
Q

What is the management for constitutional delay of growth and puberty

A

1st line: reassure and offer observation
- Boys with CDGP continue to grow at their prepubertal rate, with later acceleration and catch up

2nd line: short course sex hormone therapy:
- Boys: short course PO oxandrolone or IM testosterone (every 6 weeks for 6 months)
- Girls: transdermal oestrogen (6 months) à cyclical progesterone once established

19
Q

What is the management for primary testicular or ovarian failure causing pubertal delay

A

pubertal induction → regular hormone replacement:
Boys:
- <14yo: Oxandrolone
- >14yo: regular testosterone injections

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

+ Address psychosocial concerns

20
Q

What investigations should be done for delayed puberty

A

Girls
Bedside: pubertal staging
Bloods: LH/FSH, oestradiol, testosterone, karyotype, TFTs
Other: pelvic US, MRI brain

Boys: staging + MRI brain

21
Q

What is Ovotesticular Disorder of Sex Development (DSD)

A

hermaphroditism
Caused by the presence of both XX-containing cells and XY-containing cells in the foetus leading to the presence of BOTH testicular and ovarian tissue