Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Human Development > Paediatrics > Flashcards

Paediatrics Flashcards

1
Q

Turner syndrome definition

A

Turner syndrome occurs when a female has a single X chromosome (45XO)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Turner syndrome presentation

A

Short stature
Webbed neck
High arched palate
Downward sloping eyes with ptosis
Broad chest with widely spaced nipples
Cubitus valgus (when the arm is extended downwards with the palms facing forward, the angle of the forearm at the elbow is exaggerated, angled away from the body)
underdeveloped ovaries
Late/incomplete puberty
Infertility

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Turner syndrome complications

A

Recurrent UTIs
Recurrent otitis media
Coarctation of aorta
Bicuspid aortic valve
Hypothyroidism
Hypertension
Obesity
Diabetes
Osteoporosis
Learning disabilities

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Turner syndrome management

A

Growth hormone therapy - prevent short stature
Oestrogen and progesterone replacement for female secondary sex characteristics
Fertility treatment

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Klinefelter syndrome definition

A

Male with an additional X chromosome (47 XXY)

Rarely, can present with further X chromosomes e.g. 48 XXXY or 49 XXXXY

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Klinefelter syndrome presentation

A

Usually appear normal till puberty

Taller height
Wider hips
Gynaecomastia (developing breasts)
Weaker muscles
Small testicles
Reduced libido
Shyness
Infertility
Subtle learning difficulties

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Klinefelter syndrome management

A

Testosterone injections for symptomatic relief
Advanced IVF to aid fertility
Breast reduction
Speech and language therapy
Physiotherapy
Educational support

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Klinefelter’s complications

A

Increased risk of

Breast cancer (less than women, more than XY men)
Osteoporosis
Diabetes
Anxiety & depression

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Down’s, Edward’s & Patau syndromes definition

A

Down’s = trisomy 21
Patau = trisomy 13
Edward’s = trisomy 18

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Down’s syndrome presentation

A

Hypotonia
Brachycephaly (small head with flat back)
Short neck
Short stature
Flattened face & nose
Prominent epicanthic folds
Upwards sloping palpebral fissures (gaps between lower and upper eyelid)
Single palmar crease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Down’s syndrome complications

A

Learning disability
Recurrent otitis media
deafness
Visual problems
Hypothyroidism
Cardiac defects
Atlantoaxial instability
Leukaemia more common in children
Dementia more common in adults

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Down’s sydrome screening

A

11-14 weeks: combined test (nuchal translucency [>6mm], beta-HCG [high], PAPPA [low])

14-20 weeks: triple (beta-HCG [high], AFP [low] and serum oestriol [low]) or quadruple (same as triple plus inhibin A [high])

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Antenatal testing for Down’s syndrome

A

Chorionic villus sampling (<15 weeks) - ultrasound guided biopsy of placental tissue

Amniocentesis (later in pregnancy) - ultrasound guided aspiration of amniotic fluid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Robertsonian translocation definition

A

Translocation (portion of one chromosome directly swapped with another) in acrocentric chromosomes (13, 14, 15, 21, 22). They have a long and short arm, and lose the short arm completely, with the two long arms joining

They are usually phenotypically normal but have 45 chromosomes and risk issues in their offspring

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Congenital adrenal hyperplasia definition

A

Group of inherited genetic disorders (autosomal recessive) caused by enzyme deficiencies in the adrenal cortex, disrupting steroid hormone synthesis

Most common variant is 21-hydroxylase deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Congenital adrenal hyperplasia presentation

A

Varies greatly depending on type and severity of enzyme defect

Typical features:

Ambiguous genitalia (esp in females due to in utero exposure to excessive androgens)
Hypotension
Salt wasting crises (low Na, high K, dehydration, shock & metabolic acidosis)
Vomiting
Virilisation (developing male secondary sexual characteristics)
Precocious puberty (males)

17
Q

Congenital adrenal hyperplasia investigations

A

Blood test hormone assays - low cortisol and elevated 17-hydroxyprogesterone suggest CAH
Genetic testing
Imaging

18
Q

Congenital adrenal hyperplasia management

A

acute treatment e.g. fluid & sodium replacement and hydrocortisone
Long-term hydrocortisone/fludrocortisone as needed
Patient education
Surgical intervention

19
Q

Androgen insensitivity syndome definition

A

Difference in sex development involving hormonal resistance androgen receptor dysfunction affecting biological men (XY)

20
Q

Precocious puberty definition

A

Early onset puberty
<8yrs in girls and <9yrs in boys

First signs of pubertal maturation are breast budding in girl and testicular volume >4mm in boys

Usually idiopathic in girls and pathological in boys

21
Q

Forms of precocious puberty

A

Gonadotropin dependent (central precocious puberty)
Gonadotrophin independent (peripheral or pseudo precocious puberty)
Abnormal pattern of gonadotrophin secretion (variants of early sexual maturation)

22
Q

Causes of central precocious puberty

A

Brain tumours (e.g. gliomas, germ cell tumours secreting HCG)
Hypothalamic hamartomas
Neurosurgery
Head injuries
Radiation therapy
Previous meningitis
Abscess
Congenital abnormalities

23
Q

Causes of gonadotrophin independent/non-central precocious puberty

A

Congenital adrenal hyperplasia
McCune Albright syndrome
HCG secreting tumours
Adrenal, ovarian, testicular cancers
Aromatase excess syndromes
Exposure to exogenous sex steroid hormones

24
Q

McCune Albright syndrome definition and presentation

A

GNAS gene mutation

Polyostotic fibrous dysplasia
Cafe-au-lait skin pigmentation
Autonomous endocrine hyperfunction

25
Q

Delayed puberty definition and types

A

Onset of puberty >13yrs in girls and >14 years in boys

Constitutional delay (normal puberty just delayed)
Secondary
Hypogonadism (hypogonadotropic hypogonadism or hypergonadotropic hypogonadism)

26
Q

Hypogonadism examples

A

Hypogonadotrophic hypogonadism:
Isolated gonadotrophin deficiency
Multiple pituitary hormone deficiency
Secondary to CNS tumours or cranial irradiation or congenital malformation

Hypergonadotrophic hypogonadism:
Turner’s Syndromes and Klinefelter’s
Idiopathic gonadal failure/ autoimmune
Secondary to TBI, Abdominal Dx and chemotherapy
Rare disorders e.g. FSH receptor mutations

27
Q

Delayed puberty investigations

A

Clinical assessment of pubertal development
Hand-wrist x-ray to assess bone age
LH/FSH, thyroid hormones, oestrogen, testosterone

28
Q

Hypogonadotropic hypogonadism definition/example

A

Low levels of gonadotrophins (LH/FSH) and sex hormones

e.g. Kallmann syndrome: X-linked recessive disorder, failure of GnRH-releasing neurons to migrate into the hypothalamus during development
Similar phenotype to Klinefelter’s but with a lack of colour vision and struggle with smell

29
Q

Hypergonadotropic hypogonadism definition/example

A

High levels of gonadotrophins (LH/FSH) and low levels of sex hormones

e.g. Klinefelter’s, Turner’s syndrome

30
Q

Prader-Willi syndrome definition

A

Genetic disorder resulting from genetic imprinting, particularly affecting a gene on chromosome 15 (15q11-q13 region)
The child only expresses the maternally inherited version of the gene

31
Q

Prader-Willi syndrome presentation

A

Hypotonia
Poor feeding in infancy
Developmental delay
Short stature
Learning disabilities
Excessive hunger

32
Q

Angelman syndrome definition

A

Genetic disorder resulting from genetic imprinting, particularly affecting a gene on chromosome 15 (15q11-q13 region)
The child only expresses the paternally inherited version of the gene

33
Q

Angelman syndrome presentation

A

Fascination with water
Happy demeanour
Inappropriate laughter
Hand flapping
Epilepsy
ADHS
Wide mouth with widely spaced teeth
Severe delay/absence of speech development
Microcephaly

34
Q

5a-reductase deficiency definition

A

Autosomal recessive genetic disorder affecting biological males in which 5a-reductase is defective or absent
Enzyme usually converts testosterone to dihydrotestosterone, a more potent form of the hormone

35
Q

5a-reductase deficiency presentation/mechanism

A

5aR catalyzes the conversion of testosterone to DHT, which plays a key role in sexual differentiation of the genitalia and prostate during fetal development

Atypical genitalia
Hypospadias
Micropenis
Normal internal structures
Testes undescended

36
Q

Androgen insensitivity syndrome definition

A

X linked disorder in which androgen receptor are dysfunctional (loss of function mutation), clinically significant only in XY males

Can be complete, presenting with female external genitalia, mild when the external genitalia are male, or partial, where the external genitalia are partially masculinised

37
Q

Androgen insensitivity syndrome presentation

A

Internal, undescended testes (due to Y chromosome)
Short vagina or under-masculinised genitalia
Partial/complete regression of Mullerian structures
46XY karyotype
Normal or elevated testosterone, LH, and oestrogen

Human Development (4 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions