Week 203 Puberty Flashcards
1
Q
Define puberty:
A
Normal puberty is the physiological sequence of events that starts in late childhood and is characterized by development of secondary sexual characteristics, acceleration of somatic growth, advancement of bone maturation as well as behavioural and psychological changes.
2
Q
Define Adolescence
A
The transition from childhood dependence to adult autonomy
Adolescence is classed as 10-24 year old
Puberty reflects the physical changes that allow us to survive and reproduce in the adult world. Adolescence embodies the psychological and neurological changes that allow us to survive in the adult world as it is now
2
Q
First sign of puberty in males?
A
Testicular enlargement - > 4ml.
3
Q
How does LH act on the gonads?
A
LH acts on gonads (testes /ovary ) to increase the secretion of testosterone (male) or oestrogen (female) respectively which then promotes growth on target organs
4
Q
First sig of puberty in females?
A
Breast development.
5
Q
How does growth end?
A
Fusion of the epiphyses in response to Oestrogen.
7
Q
Consonance suggests _____
A
Puberty follows a set pattern ie consonance
ie testicular growth followed by penile growth with pubic hair, and then growth spurt ; or breast buds followed by pubic hair and growth spurt and later on menstruation
So consonance suggests activation of the hypo pit gonadal axis ie central activation of gonadotropins (so >LH FSH and gonadal hs)
7
Q
Summary of puberty
A
Hypothalamus –> Pituitary (+ Adrenals) –> Local gonadal effect -> Growth spurt
8
Q
What initiates puberty?
A
1) Genetic factors eg females earlier than males. Also when did Mo and Dad start puberty ?
2) Nutritional status Malnutrition and eating disorders lead to low BMI and for puberty to occur need BMI of at least 17kg/m2 Need a fat mass of 17% of body weight and menarche needs 22% for regular cycles
Exercise has a role eg Gymnasts.
Chronic inflammatory conditions delay or arrest puberty Crohns
3) Environment eg caring ect
9
Q
7 YO presents with body odour + Pubic hair. How do you approach problem?
A
Are there signs of puberty?
If so, do they follow a concordant pattern? (i.e. breast enlargement first)
Check growth/growth chart
10
Q
Which investigations would you give fo 7yo f with pubic hair non conchordant growth?
A
FSH LH Adrenal hormones Growth Ultrasound ovaries
11
Q
What is adrenarche?
A
Normal maturation of the adrenal gland, causing increased secretion of hormones. NORMAL PHYSIOLOGICAL PROGRESSION.
12
Q
What defines delayed puberty?
A
Absence of breast development by 13.5 years or where menstruation has not commenced within 3 years of breast growth.
In males, 14 YO Testes not developed. 80% constitutional. Diff could be Meningitis, Congenital abnor, infection, tumour.
13
Q
What is included in a hormonal profile?
A
FSH LH Androgens GtR Oestrogen/Testosterone
14
Q
What is Kallman’s?
A
Genetic condition
Delayed puberty
Lack of smell
15
Q
Treatment of delayed puberty in addition to hormonal profile?
A
Bone age
Pelvic USS
MRI
16
Q
The ____ duct and ____ duct are v important for the development of the genital system in embryology.
A
Mesonephric (Wolffian)
Paramesonephric (Mullerian)
These start to appear in the 4th week of development.
17
Q
What is the SRy gene?
A
The SRY protein (coded for by this gene) is a transcription factor, that initiates other processes.
Used to be used to try to ID as man, but no longer used.
18
Q
In week 5, cells from the yolk sac to the ______
A
Gonadal ridge
19
Q
Sertoli cells support the ______ _____
A
Developing somatocytes
20
Q
Production of sertoli cells, and resulting hormone production, which structure fades out in males?
A
Paramesonephric duct
21
Q
Mesonephric duct becomes?
A
Urethra, Epididymis, Bulbourethral glands, ejaculatory duct, vas deferens (in males)
(in females)
22
Q
Which sex is produced if no Sry gene?
A
Female
23
Q
In females, which duct fades out?
A
Mesonephric. PAramesonephric remains.
24
In females, the paramesonephric duct becomes what?
Uterovaginal primordium. This will form vagina (upper) and the uterus. The rest of the vagina, the urethra and part of the bladder is formed from the urogenital sinus.
25
AT 11 WEEKS, what can you see (in terms of reproductive embryology)
Distinct structures (albeit subtle) are beginning to form to differentiate between sexes. These are so minor though, that you CANNOT see it on US. Sex diagnosis is only really noticeable at 20 weeks.
26
Define Gubernaculum.
As the scrotum and labia majora form in males and females, respectively, the gubernaculum aids in the descent of the gonads (both testes and ovaries).
The testes descend to a greater degree than the ovaries and ultimately pass through the inguinal canal.
27
Kidney development begins in the ___ week.
Third
28
The /Pronephros/mesonephros/metanephros produces the ___ system.
Renal.
29
The ureteric bud forms the _______
Metanephros
| Also causes formation of metanephric cap. Following this, major calyx form etc.
30
A testes that has not descended normally is called?
Cryptorchidism
31
Oncholisis is a clinical sign for what?
Refers to nails coming away from the nail bed. A sign of both hyper and hpo thyroidism.
32
What are you looking out for in the examination of the visual system (thyroid exMINATION)
Exopthalmus (protruding eyes) - common in Grave's (HyPERthyroidism)
Occular movements - checking for diplopia.
Lid Lag test
33
Looking out for (thyroid exam - hands)
Oncholisis
| Clubbing
34
A CYST THAT MOVES WHEN YOU STICK YOUR TONGUE OUT IS A _____
THYROGLOSSAL CYST
35
Thyroid examination - which nodes do you go through?
```
Infraclavicular
supraclavicular
Cervical chain
Occipital
Post-> pre auricular, sumandib, submental, thyroid - 3 fingers either sid, as for swallow at this point.
```
36
A Hand tremor in examination could be a sign of ___
Hyper thyroidism
37
What is Pretibial Myxoedema?
Pretibial myxoedema is a form of diffuse mucinosis in which there is an accumulation of excess glycosaminoglycans in the dermis and subcutis of the skin.
Glycosaminoglycans, also called mucopolysaccharides, are complex carbohydrates that are important for tissue hydration and lubrication. The main glycosaminoglycan in pretibial myxoedema is hyaluronic acid, which is made by cells called the fibroblasts.
38
How does FSH act?
FSH acts on gonads to produce ova or sperm
39
What is Adrenarche?
Adrenarche is a term used to describe normal maturation
of the adrenal gland leading to enhanced secretion of androgens eg androstenedione and dehydroepiandrosterone (DHEA).
41
14yr old boy with 8mls testes pubic hair and penile growth
Expected profile?
Raised FSH Raised LH Raised testosterone
41
Normal Puberty
Expected Profile?
Raised FSH Raised LH Raised oestrogen (female) raised testosterone (male)
42
14 yr old girl with bilateral breast formation pubic hair and onset of menstruation
Expected profile?
Raised FSH Raised LH Raised Oestrogen
44
Constitutional delay in Growth and Puberty
Expected profile?
Low FSH, LH and oestrogen or testosterone
44
16 year old boy with Klienfelters
Expected Profile?
Raised FSH Raised LH low testosterone
45
16 year old girl with newly diagnosed Turners
Expected profile?
Raised FSH Raised LH low or non detectable oestrogen
46
Puberty in consonance
Expected profile?
Raised FSH raised LH raised testosterone (male) or oestrogen (female)
47
Kalmans Syndrome in 16 yr old
Expected profile?
Low FSH, LH and oestrogen or testosterone
48
Premature Thelarche (breast development) ie 2 yr old
Expected profile?
LH normal oestrogen normal FSH Mildly raised
49
Virilisation with prepubescent testes and increased penile growth in a 4 year old
Expected Profile?
Normal FSH, LH, but raised 17 hydroxyprogesterone level
50
Premature Adrenarche ie 6 yrs old
Expected Profile?
FSH,LH, Oestrogen normal testosterone but mildly raised androstenedione normal 17 OH Progesterone
51
Virilisation with cliteromegaly and no breast formation in a 4 yr old
Expected Profile?
Normal FSH, LH, but raised 17 hydroxyprogesterone level
52
Virilisation with unilateral enlargement of one testis in a 4yr old
Expected Profile?
Normal FSH LH but raised testosterone and raised HCG
53
Cafe au lait patches with pubertal changes and dysostotic bone cysts in a 6year old
Expected Profile?
Low FSH,Low LH and Raised oestrogen (female) or testosterone (male)
54
What is Gonadarche?
Onset of puberty heralded by Increase in nocturnal secretion of Gonadotropin Releasing Hormone (GnRH) towards end of 1st decade leading to increased LH and FSH secretion from the pituitary and so increased Testosterone and Oestrogen from gonads in Male and Female respectively
55
What is Adrenarche?
results from increase in adrenal androgen secretion at 6-8yr old and gives pubic and axillary hair development. It is not under the influence of FSH or LH
56
Gonadarche and Adrenarche are 2 separate ___ ______
Maturational EVENTS
57
HUGE listof various reasons for delayed puberty - try your best!
Genetic component ie Constitutional Maturational delay eg one of parents has a history of delay ( suggesting Hypothalamic Site )
Disruption of hypthalamic or pituitary control due to any intracranial condition that affects the hypothalamic or pituitary function eg cns trauma or structural abnormalities of the brain eg septo optic dysplasia, or due to tumours, or as a result of infections
Specific Lack of Gonadotrophins Eg Kalmans (Anosmia)
Chronic illness Crohns Anorexia Nervosa
Environment ie Caring Excess exercise (gymnasts)
Lack of gonadal response to Gonadotrophins stimulus eg Turners or Kleinfelters or damage to gonads eg radiation, chemotherapy, trauma
Lack of organ response to testosterone eg Androgen Insensitivity Syndrome
58
Treatment of maturational delay?
Can in boys give testosterone which will give virilisation effects until gonadotropin secretion is initiated
59
Treatment of Gonadal problem
eg Turners Sex steroid replacement
60
Treatment of delayed puberty due to dydtemic disease?
Treat underlying disease.
61
Define precocious puberty for both girls and boys
```
The development of puberty in a girl
before the age of 8 and
in a boy before the age of 9
Boys 60% pathology
Girls ~ 90 % idiopathic
```
62
Precocious puberty could be caused by:
a) premature activation of the Hypo- Pit axis
b) Inappropriate secretion of gonadal sex steroids eg oestrogen or testosterone ie not under the hypo pit axis control or else inappropriate secretion by the adrenals of androgens
63
What is congenital adrenal hyperplasia?
Commonest cause of precocious puberty following a disconcordant pattern
Due to an enzyme defect most commonly 21 hydroxylase deficiency Cortisol cannot be synthesised and a build up of 17 hydroxyprogesterone occurs which goes on to form androstenedione and then testosterone
This results in virilisation and also a lack of cortisol for fight and flight
Treatment Replacement therapy ie hydocortisone
64
Treatment for congenital adrenal hyperplasia?
Replacement therapy ie hydocortisone
65
Precocious puberty in males BOTh testes enlarged?cause?
Clinically Central cause need to exclude Intracranial tumour or secreting tumour elsewhere
66
Precocious puberty in males Testes not enlarged ?cause?
```
Not central (so low FSH and LH and Testosterone) ? Adrenal ?
Late presentation of 21 hydroxylase def or other enzyme defect
```
68
Precocious puberty in males 1 testes enlarged ?cause?
source – is it that testis?(so Low FSH and LH but >>> Testosterone )
? Testicular tumour
69
Standard dose Amoxycillin 0-18 yo is what?
20-30 mg/kg/8 hours
70
The presence of which sex chromosome is essential for gonadal differentiation to ovaries?
XX - Absence of Y chromosome.
71
NOrmal Male Karyotype?
XY
There is a controller gene on the y chromosone that directs development of testes.
72
Normal female gonadal development needs X or xX?
X
73
Which hormone is secreted by the Leydig cells to induce development of male internal genitalia?
Mullerian hormone.
74
Female development is in response to:
Absence of certain thing. Presence of antimullerian hormone.
There is a slide of questions on ppt - see these (pic o phone)
75
Migration of testes is dependant on which hormone?
Testosterone
76
Which hormone in both sexes leads to closure of the epiphyseal growth plate?
Oestrogen
77
Pulsatile secretion of which hormone is essential for onset of puberty?
Gonadtrophin secreting hormone
78
The two pituitary gonadatrophins?
fsh and Lh
79
Which hormone in females influences thelarche?
Oestrogen
80
What is melarche and what does it signal?
First period/onset of period
| The final event in the development of puberty in female children
81
Is Menarche dependent on critical body mass?
YEs, below bmi 17
82
How to confirm delayed puberty?
Bone age - see if lower than chronologcial age.
83
Primary gonadal failure?
Hypergonadatrophic failure (high fsh and lh)
Usually an indication that there is something wrong with the gonads.
84
Central failure?
Low fsh and lh - pituitary fault
85
Absence of which sense is a sign of Kallmans syndrome?
SMELL
86
Lactation at an unexpected time could be a sign of -____
prolactinoma
87
Anti mullerian hormone is released from?
Sertoli cells
88
What is the difference between true central and peripheral precocious puberty?
Secondary sexual development induced by SEX STEROIDS from abnormal sources cause Peripheral pp. However, if the cause can be traced to the hypothalamus or the pituitary,. the cause is considered central.
89
What causes central precocious puberty?
If the cause can be traced to the hypothalamus or pituitary, the cause is considered central. Other names for this type are complete or true precocious puberty.[4]
Causes can include:
Damage to the inhibitory system of the brain (due to infection, trauma, or irradiation)
Hypothalamic hamartoma produces pulsatile gonadotropin-releasing hormone (GnRH)
Langerhans cell histiocytosis
McCune-Albright syndrome
90
What causes peripheral precocious puberty?
Causes can include:
```
Endogenous sources
gonadal tumors (such as arrhenoblastoma)
adrenal tumors
germ cell tumor
congenital adrenal hyperplasia
McCune–Albright syndrome
Exogenous hormones
Environmental exogenous hormones
As treatment for another condition
```
91
What is 17 - ohp
17 - Hydroxyprogesterone - a c-21 steroid hormone produced during the synthesis of glucorcorticoids and sex steroids.
92
Hyperthalamic hamatoma
Benign congenital midline structure (inoperable) that can cause precocious puberty and laughing seizures.
93
21-adrenal hyperplasia causes?
Tonnes of adrenal hormones - peripheral precocious puberty, 17-poh not working! Requires trx with hydrocortisone (steroid rep therapy)
94
What is McCune Albright syndrome?
```
AKA hereditary osteodystrophy
Rare genetic syndrome
Causes polyostotic fibrous dysplasia
Unilateral cade au laiit spots
Hyperfunction of the endocrine system - can show cushings like syndrome (though varied, so there is a wide scale of symptomatic presentation)
```
95
What are the Physchological aspects of early puberty?
```
Concerns over physical differences
Coping with periods
Adolescent moods
Tasks of adolescence (10?)
More depressed, anxious etc.
```
96
What is proptosis?
Bulging of the eyes - displacement (forwards) of the eye ball from the socket.
97
Which cells produce the hormone that causes the degenration of the mullerian duct?
Sertoli cells
98
Which germ layer forms the lower part of the vagina?
Endoderm
99
Which of the following hormones produces ovarian production of oestrogen and progesterone
lh and fsh
100
Which cells lead to the degeneration of the mullerian duct?
Sertoli
101
Which cells interact with the primitive sex chords to form gonads?
Germ cells
102
Where do germ cells originate?
Yolk sac
103
What is the inheritance patter of CAH
Autosomal recessive
104
What test is most indicative of congenital adrenal hyperplasia?
17 Alpha Hydroxyprogesterone
105
Salt wasting Congenital adrenal hyperplasia?
A salt wasting form. Boys with the salt-losing form typically present at 7-14 days of life with vomiting, weight loss, lethargy, dehydration, hyponatraemia and hyperkalaemia and can present in shock. Usually caused (95%) by 21-hydroxylase deficiency.
106
Benign premature thelarche
I. Pathophysiology
Benign self-limited cause of Precocious Puberty
II. Epidemiology
Onset as early as age 18 months
III. Signs
Early Breast development (not to mature Breast contour)
No other signs of Puberty
Normal prepubertal growth rate
IV. Radiology
Bone age consistent Chronological age
Ovarian Ultrasound normal
V. Labs
Serum Gonadotropin levels normal
Serum Estradiol normal
```
VI. Management
Reassurance
Do not biopsy Breast
Biopsy results in partial Mastectomy
Further Breast development abnormal post-biopsy
```
107
4 YO F with breast development and Bilateral hemianopia. Cause?
Pituitary Tumour i.e craniopharangyoma (could be pituitary adenoma, but that's far less common in this context)
108
The Karyotype of a normal female is
Two X Chromosomes (XX)
109
The presence of which sex chromosome is essential for gonadal differentiation to ovaries?
XX - more specifically, the ABSENCE of a Y Chromosome (SRY Gene)
110
Which controller gene on Y Chromosome signals development of testis?
SRY gene.
111
Is it true that initiation of gonadal development to ovaries needs xx chromosomes?
No. It can be initiated with one X Chromosome, but for a complete ovary, two x chromosomes are needed.
112
Completion of normal gonadal development needs ... in the ovary and ... chromosome in the testis.
XX
| XY
113
In Males, internal genitalia develop from ___ ducts.
Mesonephric Duct (Wolffian duct)
114
In Females, internal genitalia develop from ......
Paramesonephric duct (Mullerian)
115
Which hormone secreted by the Leydig cells induces development of male internal genitalia.
LH
116
Which hormone secreted by the Sertoli cells induces regression of Mullerian ducts in males?
AMH Anti-Mullerian Hormone.
117
Development of female internal genitalia is an active response to Oestrogens secreted by the ovaries - True/False
False. The female sexual apparatus differentiates itself spontaneously in the direction of the feminine phenotype without particular hormonal influences.
118
Which hormone induces development of female external genitalia?
Oestrogen
119
Male phenotypic features arise actively via genetic and endocrine activities - is this statement correct?
Yes . During the embryonic period (from the 6th week) the interstitial cells (Leydig) in the fetal testes secrete the testosterone hormone that is responsible for the male differentiation of the genital anlagen.
120
Migration of testis to scrotal position is dependent on which hormone?
Testosterone.
121
What are the dominant adrenal hormones involved in puberty?
Oestrogen and testosterone.
122
What hormone in both sexes leads to closure of the epiphyseal growth plate
Oestrogen.
123
What is dyspareunia?
Pain or discomfort in the female during intercourse
124
"Pubarche" refers to what?
The onset of the growth of pubic hair.
125
Pulsatile secretion of which hormone is essential for onset of puberty?
Gonadotropin-releasing hormone (GnRH).#
Also known as Luteinizing-hormone-releasing hormone (LHRH) and luliberin, GnRH is a trophic peptide hormone responsible for the release of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) from the anterior pituitary. GnRH is synthesized and released from GnRH neurons within the hypothalamus.
126
Name the two pituitary gonadotrophins.
FSH and LH.
127
Which hormone is essential for the development of male external genitalia at puberty?
Testosterone, produced by Leydig cells, promotes development of Wolffian duct derivatives and masculinization of the external male genitalia.
128
What is the first sign of puberty in males?
Enlargement of the testicles.
129
What is the normal testicular volume of an adult male?
15-35 mls
130
what is the first sign of puberty in females?
Breast development.
131
Which hormone in females influences thelarche?
Oestradiol
132
What does menarche signify?
When menarche occurs, it confirms that the girl has had a gradual estrogen-induced growth of the uterus, especially the endometrium, and that the "outflow tract" from the uterus, through the cervix to the vagina, is open. It DOES NOT signify ovulation - this may not occur for some time after menarche.
133
Is menarche dependent on critical body mass?
Typically dependent on attainment of approximately 17% body fat.
134
How would you confirm delayed puberty?
Bone age (x ray left hand and wrist)
135
How do you define delayed puberty?
Complete absence of physical signs of puberty after age 13 in girls and age 14 in boys. More common boys (10:1)
136
Which two hormones are high in primary gonadal failure?
FSH and LH
137
Which hormones are LOW in central gonadal failure?
FSH and LH
138
What are the differential causes for Hypergonadotrophic Hypogonadism?
Genetic:
- Turners (XO)
- Klinefelter's (XXY)
- Autoimmune
Enzyme defects:
- 17-Alpha hydroxylase
- 17 Ketosteroid reductase
Iatrogenic:
- chemotherapy
- Pelvic irradiation
- Total body irradiation
Other:
Androgen insensitivity
Bilateral Cryptorchidism in males (uncorrected before 8 years)`
139
What is the commonest cause of central failure (delayed puberty)?
Constitutional delayed puberty
140
Other than constitutional delayed puberty, which differential causes for Central delayed puberty are there (Hypogonadotrophic hypogonadism >FSH >LH)
```
Eating disorder i.e. anorexia
Excessive physical activity i.e. gymnast
Hypothyroidism
Intracranial tumour i.e. craniopharyngioma
Panhypopituitarism
Isolated GH or GnRH deficiency.
```
141
What is AIS?
Androgen insensitivity syndrome. Partial or complete insensitivity of genital tissues to androgens.
142
Enzymatic deficiencies of enzyme 5-alpha reductas, 17-ketosteroid reductase, 17-alpha hydroxylase, 3-beta hydroxysteroid dehydrogenase and 17- beta hydroxysteroid dehydrogenase cause a defect in the biosynthesis of which hormone?
Testosterone
143
What is the genetic inheritance pattern of AIS i.e autosomal dominant etc.
X-linked recessive.Passed via female line. Mother of child with AIS is carrier. 1:4 risk of having child with AIS xhanges to 1:2 if child is male.
144
What is McCune -Albright syndrome?
The McCune-Albright syndrome consists of at least two features of the triad of:
Polyostotic fibrous dysplasia.
Café au lait skin pigmentation.
Autonomous endocrine hyperfunction (including precocious puberty, thyrotoxicosis, pituitary gigantism and Cushing's syndrome).
VERY RARE!
145
Causes of central precocious puberty?
```
Idiopathic
2ndary to:
-Hydrocephalus
- Tumours
- Trauma
- Chronic inflammatory conditions
- Radiotherapy
Sexual abuse
-Adoption
```
146
Causes of peripheral precocious puberty?
McCune albright
Testotoxicosis
Hypothyroidism
Ovarian cyst
Adrenarche
CAH
Cushings
Adrenal Tumlur
GnTH secreting tumour
Exogenous steroids
147
Symptoms of central precocious puberty?
```
< 8 yo
Progressive breast development
Growth spurt
Pubic and Axillary hair
Acne
BO
Mood swings
Advanced bone AGE
```
148
How would you manage central precocious puberty?
GnRH analogue, stop 11-12 years (inhibits lh and fsh secretion).
149
In peripheral precocious puberty, unlike central, Lh and FSH are _____ _____
Not detectable.
150
Hereditary osteodystrophy is another name for which disorder?
MCune-albright syndrome
