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Phase 2a - Endocrinology > Puberty delays > Flashcards

Puberty delays Flashcards

1
Q

Definition of puberty

A

Describes the physiological, morphological, and behavioural changes as the gonads switch from infantile to adult forms.

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2
Q

What is the definitive sign of puberty in girls?

A

Menarche.

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3
Q

What is the definitive sign of puberty in boys?

A

First ejaculation - often nocturnal.

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4
Q

What secondary sexual characteristics occur in girls due to ovarian oestrogens?

A

Reulation of growth of breast and female genitalia.

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5
Q

What secondary sexual characteristics occur in girls due to ovarian and adrenal androgens?

A

Control of pubic and axillary hair growth.

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6
Q

What secondary sexual characteristics occur in boys due to testicular androgens?

A

External genitalia and pubic hair growth.
Enlargement of larynx and laryngeal muscles = deepening of voice.

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7
Q

Tanner stage 1 for boys

A

Prepubertal - no pubic hair.
Testicular length <2.5 cm
Testicular volume <3.0 mL

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8
Q

Tanner stage 2 for boys

A

Sparse growth of slightly curly pubic hair, mainly base of penis.

Testes > 3 mL (>2.5 cm in longest diameter).

Scrotum thinning and reddening.

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9
Q

Tanner stage 3 for boys

A

Thicker, curlier hair spread to mons pubis.

Growth of penis in width and length, further growth of testes.

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10
Q

Tanner stage 4 for boys

A

Adult-type hair, not yet spread to medial surface of thighs.

Penis further enlarged; testes larges, darker scrotal skin colour.

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11
Q

Tanner stage 5 for boys

A

Adult-type hair spread to medial surface of thighs.

Genitalia adult size and shape.

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12
Q

What is used to measure testicular volume?

A

Orchidometer

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13
Q

Tanner stage 1 for girls

A

Prepubertal: no pubic hair.

Elevation of papilla only.

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14
Q

Tanner stage 2 for girls

A

Sparse growth of long, straight or slightly curly, minimally pigmented hair, mainly on labia.

Breast bud noted/palpable; enlargement of areola.

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15
Q

Tanner stage 3 for girls

A

Darker, coarser hair spreading over mons pubis.

Further enlargement of breast and areola, with no separation of contours.

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16
Q

Tanner stage 4 for girls

A

Thick adult-type hair, not yet spread to medial surface of thighs.

Projection of areola and papilla to form secondary mound above level of breast.

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17
Q

Tanner stage 5 for girls

A

Hair adult-type and distributed in classic inverse triangle.

Adult contour breast with projection of papilla only.

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18
Q

What is the average onset of menarche in girls?

A

African-American: 12.16
White: 12.88

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19
Q

Thelarche (breast development)

A

First visible change of puberty.

Induced by oestrogen.

Completed in about 3 years.

May be unilateral for several months.

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20
Q

What are the effects of oestrogen on the breast?

A

Ductal proliferation.

Site specific adipose deposition.

Enlargement of the areola and nipple.

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21
Q

What other hormones are involved in breast development?

A

Prolactin.

Glucocorticoids.

Insulin.

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22
Q

Describe the prepubertal uterus

A

Corpus to cervix ratio = 1:2
Tubular shape
Length 2-3 cm
Volume 0.4 - 1.6 mL
Endometrium single layer of cuboidal cells

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23
Q

Describe the prepubertal ovaries

A

Volume 0.2 - 1.6 mL
Non functional

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24
Q

Describe the adult uterus

A

Corpus to cervix ratio = 1:2
Pear shape
Length 5-8 cm
Volume 3-15 mL
Endometrium increased thickness

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25
Q

Describe the adult ovaries

A

Volume 2.8 -15 mL
Multicystic

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26
Q

What are the three most important checks for a pelvic ultrasound?

A

Are the Mullerian structures present?
Morphology of the uterus?
Morphology of the ovaries?

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27
Q

Prepubertal maturation of the vagina

A

Reddish in colour.

Thin atrophic columnar epithelium.

pH neutral.

Length 2.5 - 3.5 cm

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28
Q

Pubertal maturation of the vagina

A

Dulling of the reddish colour.

Thickening of the epithelium.

Cornification of the superficial layer of the stratified squamous epithelium.

pH = acidic (3.8 - 4.2).

Secretion of clear whitish discharge in the month before menarche.

Length 5-8 (-12) cm

29
Q

How does oestrogen affect the maturation of the external genitalia?

A

Labia major and minora increase in size and thickness.

Rugation and change in colour of the labia majora.

Hymen thickens.

Clitoris enlarges.

Vestibular glands begin secretion.

30
Q

How do adrenal and ovarian androgens affect the maturation of the external genitalia?

A

Growth of pubic and axillary hair.

31
Q

Precocious puberty

A

Onset of secondary sexual characteristics before 8 yrs (girl), 9 yrs (boy).

May lead to short stature in girls.

32
Q

Delayed puberty

A

Absence of secondary sexual characteristics by 14 yrs (girl) and 16 yrs (boy).

Leads to reduced peak bone mass and osteoporosis.

33
Q

Adrenarche

A

Maturational process of the adrenal gland.

Specialised subset of cells arise forming the androgen producing ZR.

Peri-pubertal activation.

Increased DHEA, DHEA-S

Mild advanced bone age, axillary hair, oily skin, mild acne, body odour.

34
Q

HPG axis

A

Hypothalamus
Pituitary (FSH and LH)
Gonads (Gonadal sex hormones)
Periphery (sex hormone action)

35
Q

True precocious puberty

A

Incidence 1 in 5000 to 10000.

90% females.

Rule out brain tumour.

36
Q

Precocious pseudopuberty

A

Excess productio of sex hormones from the gonads or ectopic: hCG secreting tumour in gonads, brain, liver, retroperitoneum, mediastinum.

37
Q

What is the differential diagnosis of True precocious puberty and precocious pseudopuberty?

A

Stimulated LH:FSH ratio is >1 in true.

Stimulated LH:FSH ratio is <1 in pseudo.

38
Q

What is the treatment of true precocious puberty?

A

GnRH super-agonist to suppress pulsatility of GnRH secretion.

39
Q

True (Central) Precocious Puberty (GnRH dependent) causes:

A

Idiopathic.

CNS tumours (optic glioma associated with NF1; Hypothalamic astrocytoma).

CNS disorders (developmental abnormalities, hypothalamic hamartomas, encephalitis, brain abscess, hydrocephalus, myelomeningoele, arachnoid cyst, vascular lesion, cranial irradiation.

Secondary.

Psychosocial.

40
Q

Precocious pseudo-puberty (GnRH independent)

A

Increased androgen secretion:
- congenital adrenal hyperplasia
- virilising neoplasm
- Leydig cell adenoma
- Familial male precocoious puberty - testotoxicosis

Gonadrotroping secreting tumours:
- Chorioepithelomas, germinoma, teratoma,
- hepatoma, choriocarcinoma

McCUne-Albright syndrome
Ovarian cyst
Oestrogen secreting neoplasm
Hypothyroidisim
Iatrogenic or exogenous sex hormones

41
Q

Idiopathic (constitutional) delay in growth and puberty

A

Delayed activation of the hypothalamic pulse generator.

42
Q

Hypogonadotrophic hypogonadism

A

Sexual infantilism related to gonadotrophin deficiency.

43
Q

Hypergonadotrophic hypogonadism

A

Primary gonadal problem.

44
Q

Delayed puberty

A

Occurs in about 3% of children
* In boys, delayed puberty often constitutional
and functional (63%)
* In girls, delayed puberty less common and
often organic
* Delay in puberty leads to delay in acquisition
of secondary sex characteristics, psychological
problems, defects in reproduction and
reduced peak bone mass.

45
Q

What are the indications for investigations in girls?

A

Lack of breast development by 13 yrs.

More then five years between breast development and menarche.

Lack of pubic hair by age of 14 yrs.

Absent menarche by age 15-16 yrs.

46
Q

What are the indications for investigations in boys?

A

Lack of testicular enlargement by age 14 yrs.

Lack of pubic hair by age 15 yrs.

More than 5 years to complete genital enlargement.

47
Q

Constitutional delay of growth and puberty (CDGP)

A
  • Single most common cause in both sexes
  • More common in boys
  • Extreme of the normal physiologic variation
  • Diagnosis of exclusion
  • More likely to be short for age with history of normal
    growth rate
  • Delay in bone maturation, delay in adrenarche
  • Frequently family history of late menarche in mother
    or sister or delayed growth spurt in father
  • Onset of puberty corresponds better with bone age
    than chronological age
48
Q

Investigations

A

History taking (loss of smell gonads and olfactory bulb are linked?)

This decrease in gonadal function is due to a failure in the differentiation or migration of neurones that arise embryologically in the olfactory mucosa to take up residence in the hypothalamus serving as gonadotropin-releasing hormone (GnRH) neurones.

49
Q

Laboratory investigations

A

Complete RBC count
U&E, renal, LFT, coeliac ab
LH, FSH, Testosterone, oestradiol (low concentrations can be seen during quiescent phase and early puberty).
Thyroid function, prolactin
DHEA-s, ACTH, Cortisol

50
Q

Karyotying CGH assay

A

Physical examination / biochemistry suggestive of genetic syndrome.

in ALL girls with short stature.

51
Q

Bone age

A

Skeletal age is more closely correlated with pubertal development than chronological age.

52
Q

Delayed bone age

A

GH deficiency

53
Q

Advanced bone age

A

Precocious puberty

54
Q

Functional causes of CDGP

A

Chronic renal disease
* Chronic gastrointestinal
disease/ Malnutrition
* Sickle cell disease/ ion
overload
* Chronic lung disease/ CF
* Anorexia nervosa
* Bulimia
* Psychosocial/ stress
* Extreme exercise
* Drugs
* AIDS, recurrent infections
* Poorly controlled T1D
* Hypothyroidism
* Cushing’s syndrome
* Hyperprolactinaemia

55
Q

HPG axis definitions

A

primary - gonads
secondary - pituitary
tertiary - hypothalamus

56
Q

Primary hypogonadism

A

GnRH is high, FSH and LH high but there is a primary problem with the gonads themselves.

Hypergonadotrophic hypogonadism.

57
Q

Secondary/tertiary hypogonadism

A

Hypogonadotropic hypogonadism (GnRH, FSH, LH low)

58
Q

Hypogonadotropic hypogonadism causes

A

CNS disorders - tumours
Other causes - head trauma
Isolated gonadotrophin deficiency (Kallmann’s syndrome)
Idiopathic and genetic form of multiple pituitary hormone deficiencies
Miscellaneous disorders (Prader Willi)

59
Q

Kallmans’s syndrome can present

A

With hyposmia or anosmia
Without anosmia

60
Q

Kallmann’s syndrome

A

Hypogonadotrophic hypogonadism
* 1 in 10,000 – M:F 4:1
* Anosmia in 75%
* Failure of migration of GNRH neurons
* Multiple generic causes
– X-linked, autosomal recessive or autosomal dominant
– Mutations in Kal-1, FGF-receptor 1, prokineticin
– GnRH-receptor, GPR54 (normoosmic)

61
Q

Genetics defects of hypogonadotrophic hypogonadism

A

GnRH neuron migration
GnRH synthesis and release
GnRH action
Gonadotrophin synthesis

62
Q

What is the gold standard diagnostic to differentiate between congenital hypogonadotrophic hypogonadism and CDGP?

A

No gold-standard test is available.

Inhibin B marker of Sertoli cell number and
correlates with testicular volume.

In men with CHH and severe GnRH deficiency
serum levels of inhibin B are typically very low.

For partial forms of CHH, inhibin B levels
overlap with those in patients with CDGP and
in healthy controls.

63
Q

Hypergonadotropic hypogonadism in males and females (primary gonadal failure)

A

Klinefelter’s syndrome
Turner’s syndrome and its variants

64
Q

Turner’s syndrome

A

45 XO girls

1 in 2,000 girls

At birth oedema of dorsa of hands, feet and
loose skinfolds at the nape of the neck

Webbing of neck, low posterior hairline,
small mandible, prominent ears, epicanthal
folds high ached palate, broad cheast,
cubitus valgus, hyperconvex fingernails

Hypergonadotrophic hypogonadism,
streak gonads

Cardiovascular malformations

Renal malformations (horseshoe kidney)

Recurrent otitis media

Short stature

65
Q

Klinefelter syndrome

A

47 XXY

Affects approx. 1 in 1,000 males

Primary hypogonadism

Azoospermia, Gynaecomastia

Reduced secondary sexual hair

Osteoporosis

Tall stature

Reduced IQ in 40%

20-fold increased risk of breast cancer

66
Q

Replacement therapy for females

A

Ethinyloestradiol (tablet) or
Oestrogen (tablets, transdermal)

Start with low, gradual increasing doses to
provide time for pubertal growth and gradual
breast development

Several incremental steps over 2 years until
full adult replacement dose achieved

Once full replacement dose achieved,
progesterone should be added

67
Q

Replacement therapy for males

A

Testosterone enanthate, IM injection most
common method of pubertal induction and
maintenance

Increasing use of transdermal testosterone

Several incremental steps of 2(-4) years until
full adult replacement dose achieved

68
Q

Fertility treatment

A

Patients with hypogonadotrophic
hypogonadism potentially fertile

  • Typical approach to fertility induction is pump
    administered GnRH-TX (requires intact
    pituitary)
  • Or parenteral combination of gonadotrophin
    TX (LH/hCG and FSH)

Phase 2a - Endocrinology (11 decks)

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