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203 Puberty and Adolescence Flashcards

0
Q

What is the term given for the the onset of breast development in girls?

A

Thelarche

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1
Q

What is the term given for the onset of increased androgen secretin by the adrenal cortex?

A

Adrenarche

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2
Q

What is the average age of onset of menarche in the UK?

A

13

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3
Q

Where do the gonads develop from in utero?

A

Somatic mesenchyme and primordial germ cells

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4
Q

Which week of development does gonadal development happen?

A

6

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5
Q

What does the presence of the Y chromosome lead to in development?

A

testicular development

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6
Q

Which gene on the Y chromosome leads to testicular development?

A

SRY

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7
Q

What happens in development in the absence of Y chromosome?

A

Ovarian development

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8
Q

What does completion of gonadal development require?

A

Number of X chromosomes

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9
Q

What (in utero) is required for development of male internal genitalia? (Epididymis, vas def, seminal vesicles)

A

Androgen and AMH

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10
Q

Which cells make androgens in utero?

A

Leydig

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11
Q

Which cells make AMH in utero?

A

Sertoli

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12
Q

What does the absence of androgens and AMH lead to in utero?

A

Female internal genital development

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13
Q

What is the mechanism for development of the fallopian tubes, uterus and upper vagina in utero?

A

Müllerian ducts not inhibited by AMH and therefore able to develop

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14
Q

Is ovarian activity needed for development of female internal genitalia in utero?

A

No

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15
Q

What does the presence of androgens lead to in the development of male external genitalia?

A

Fusion of the urethral folds and penile/scrotal formation

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16
Q

What does the absence of androgens lead to in the development of the female external genitalia?

A

Allows development of labia, clitoris and lower 1/3 of vagina

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17
Q

Which hormone begins secreting from the hypothalamus in a pulsatile fashion at puberty?

A

GnRH

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18
Q

When is GnRH actually produced?

A

During the foetal period

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19
Q

Which 2 hormones are stimulated by GnRH and where are they secreted from?

A

LH and FSH from the anterior pituitary

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20
Q

What is stimulated by GRH?

A

Pituitary to produce GH

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21
Q

Which hormone inhibits GH?

A

Somatostatin

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22
Q

What does GH stimulate in the liver?

A

Production of IGF-1

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23
Q

What is the role of IGF-1 in puberty?

A

Mediates the effect of GH through negative feedback. Inhibits further secretion of GH and GRF. Stimulates GnRH secretion therefore increasing gonadal activity

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24
What is the role of granuloma cells in the ovaries?
Surround oocyte and produce ovarian growth factors and convert testosterone into oestrogen when stimulated by FSH
25
Where are the a interna cells found?
Outside basal membrane of the follicle and produce androgens
26
Where are theca externa cells found?
Outermost layer of ovarian follicular cells and are mainly supportive - produce collagen
27
What 2 things does FSH stimulate in the ovaries?
Follicular growth - particularly granulosa cells | Conversion of testoserone to oestrogen by granulosa cells
28
What 2 things does LH stimulate in the ovaries?
Theca cells to produce androgens. | Ovulation - rupture of follicle, release of ovum, maintenance of corpus luteum after ovulation
29
Where are germ cels located in the testes?
In seminiferous tubule epithelium - they develop into sperm
30
Where are Sertoli cells situated?
Seminiferous tubule epithelium - secrete GF and nutrients supporting sperm development
31
Where are leydig cells situated?
Between the seminiferous tubules and secrete testosterone
32
What does FSH stimulate in the testes?
Sertoli cells to produce GFs and proteins including Inhibin B
33
What does LH stimulate in the testes?
Leydig cells to produce testosterone
34
What is the role of testosterone and Inhibin B in the testes?
Part of the negative feedback loop - inhibits GnRH + LH + FSH by the hypothalamus and pituitary
35
What does the tanner staging measure?
Stages of puberty
36
What is included in the tanner staging of pubertal development?
Breast development/ testicular development | Pubic hair + axillary hair growth
37
What is the first physical sign of puberty in girls?
Breast budding
38
What tanner stage is breast budding?
Stage 2
39
At which age range do secondary sexual characteristics develop in girls?
9-14 years
40
When does peak growth occur in girls?
10-14 years
41
What triggers menarche?
Beginning of cyclic release of LH
42
At what age is there a peak of testosterone secretion by leydig cells in boys (before onset of puberty)?
2 months
44
Which hormone do Sertoli cells continue to secrete until puberty?
AMH
45
At what age do boys develop secondary sexual characteristics?
10-14
46
Which hormone stimulates the development of secondary sexual characteristics in boys?
Dihydrotestosterone
47
The cyclic release of which hormone stimulates the production of dihydrotestosterone in boys?
LH
48
At what age range does peak growth occur in boys?
13-16 years
49
What is average testicular volume during peak growth in boys?
~15ml
50
What is precocious puberty?
Early sexual development with initial increase in stature but decreased stature in adulthood
51
What is true central precocious puberty?
Normal puberty but occurring earlier than usual
52
What is the difference between TCCP (true central precocious puberty) in boys as compared to girls?
In girls = relatively normal and no investigations are needed, whereas in boys it is very rare and should alway be investigated
53
Name 3 causes of TCCP
1. Cranial irradiation 2. Tumour 3. Neurological disorder
54
What investigations should be carried out in precocious puberty in boys?
Hormone levels, head MRI
55
Name 4 causes of precocious pseudopuberty (6 listed)
``` Adrenal/gonadal tumour Neurofibromatosis Type 1 McCune Allbright syndrome Congenital adrenal hyperplasia Severe hypothyroidism Iatrogenic ```
56
What are the features of Neurofibromatosis type 1? | 5 listed
``` >6 cafe-au-lait spots Neurofibromas Axillary freckles Optic gliomas Sphenoid dysplasia ```
57
What can sphenoid dysplasia in neurofibromatosis type 1 cause?
Eye protrusion
58
What sequelae can arise from neurofibromatosis type 1? | 4 listed
Precocious pseudopuberty Phaeochromocytoma Pulmonary HTN Renal artery stenosis
59
What is the predominant feature in neurofibromatosis type 2?
Bilateral acoustic neuromas
60
What is McCune Allbright syndrome?
Genetic mutation causing bone and endocrine disorders with early puberty
61
What is polyostotic fibrous dysplasia?In which disease causing precocious pseudopuberty it occur?
Bone fractures and deformities due to fibrous bone tissue replacing normal bone - McCune Allbright syndrome
62
What endocrine dysfunctions occur in McCune Allbright syndrome?
Hyperthyroidism | Cushing's
63
Which is the only cause of precocious pseudopuberty which may arrest growth?
Severe hypothyroidism
64
What will hormone assays show in pseudo precocious puberty?
Decreased LH and FSH | Increased oestrogen and testosterone
65
What is the management of precoious pseudopuberty? | 3 things listed
1. GnRH analogues - which cause continuous stimulation of the pituitary which therefore causes switch off of the HPG axis 2. Sex steroid restriction/antagonisation Rx e.g. spironolactone - blocks androgen receptors 3. Surgery to remove tumours
66
What is classified by delayed puberty?
Absence of secondary sexual characteristics by: boys 14 girls 13
67
Name 3 central causes of delayed puberty (with intact HPG axis)
Chronic disease/ anorexia Psychosocial deprivation Steroids Hypothyroidism
68
What can affect the HPG axis to cause delayed puberty? | 6 listed
1. Tumours e.g. cranial/optic gliomas which can compress the hypothalamus/pituitary 2. Congenital pituitary/hypothalamic defects 3. Irradiation 4. Trauma 5. Kallmans syndrome 6. Prader-Willi syndrome
69
What is Kallman syndrome?
Isolated GnRH deficiency leading to hypogonadism. | Cause by a genetic hypothalamic abnormality
70
What is Prader-WIlli syndrome?
Genetic condition similar to Downs with multisystem effects
71
Name 4 gonadal causes of delayed puberty | 7 listed
1. Bilateral testicular damage 2. PCOS 3. Noonan's syndrome (male turners) 4. Turners 5. Irradiation/chemo 6. Intersex disorders - androgen insensitivity disorder 7. Thalassaemia
72
What is androgen insensitivity disorder?
Mutation causing inability to produce androgen receptor - causing delayed puberty
73
How can thalassaemia cause delayed puberty?
May cause ischaemic damage to the gonads due to occlusion of the blood supply
74
What are the characteristics of Turner's syndrome? | 7 listed
``` Ovarian dysgenesis Webbed neck Mental retardation Short stature Delayed puberty Amenorrhoea Infertility ```
75
What is the genetic mutation in Turner's syndrome?
Part or all of one X chromosome missing

JG Year 2 (28 decks)

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