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Phase 3a - Paediactrics > Endocrine > Flashcards

Endocrine Flashcards

1
Q

What is cryptorchidism?

A

Cryptorchidism, commonly known as undescended testes, is a condition where one or both of a male infant’s testes have not descended into the scrotum.

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2
Q

What percentage of male infants are born with undescended testes?

A) 1%

B) 5%

C) 10%

D) 20%

A

B) 5%

Explanation: Approximately 5% of male infants are born with undescended testes.

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3
Q

What are common causes of undescended testes?

A

Prematurity

Genetic disorders

Hormonal imbalances

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4
Q

Which of the following is a risk factor for undescended testes?

A) Full-term birth

B) Family history of the condition

C) Female gender

D) Maternal smoking

A

B) Family history of the condition

Explanation: A family history of undescended testes increases the risk of the condition in newborns.

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5
Q

What are common symptoms of undescended testes?

A

Absence of one or both testes in the scrotum

Palpable testis in the groin or abdomen

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6
Q

How is undescended testes typically diagnosed?

A) Blood tests

B) Physical examination

C) Ultrasound

D) MRI

A

B) Physical examination

Explanation: Diagnosis is primarily based on physical examination, where the absence of one or both testes in the scrotum is noted.

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7
Q

What is the first-line treatment for undescended testes?

A) Hormonal therapy

B) Surgical intervention

C) Observation

D) Antibiotics

A

B) Surgical intervention

Explanation: Surgical correction, known as orchidopexy, is the standard treatment for undescended testes.

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8
Q

True or False: Most cases of undescended testes resolve without treatment

A

False

Explanation: While some cases may resolve spontaneously, surgical intervention is often necessary to prevent complications.

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9
Q

What are potential complications of untreated undescended testes?

A

Testicular torsion

Inguinal hernia

Reduced fertility

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10
Q

Which of the following is a preventive measure for undescended testes?

A) Regular physical examinations

B) Hormonal therapy during pregnancy

C) Avoiding maternal smoking

D) All of the above

A

D) All of the above

Explanation: Regular physical examinations, hormonal therapy during pregnancy, and avoiding maternal smoking can help prevent undescended testes.

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11
Q

Which condition should be considered in the differential diagnosis of undescended testes?

A) Hypospadias

B) Inguinal hernia

C) Hydrocele

D) All of the above

A

D) All of the above

Explanation: Conditions such as hypospadias, inguinal hernia, and hydrocele should be considered when diagnosing undescended testes.

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12
Q

True or False: Support groups and educational resources are beneficial for families managing a child with undescended testes.

A

True

Explanation: Support groups and educational resources provide valuable information and emotional support for families.

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13
Q

What is testicular torsion?

A

Testicular torsion occurs when the spermatic cord twists, cutting off blood flow to the testicle, leading to sudden pain and swelling.

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14
Q

In which age group is testicular torsion most commonly observed?

A) Newborns

B) Adolescents

C) Adults

D) Elderly

A

B) Adolescents

Explanation: Testicular torsion is most common in adolescents, particularly between 10 and 18 years of age.

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15
Q

What are common causes and risk factors for testicular torsion?

A

Bell-clapper deformity

Testicular trauma

Physical activity

Cold temperatures

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16
Q

What are typical symptoms of testicular torsion?

A

Sudden, severe testicular pain

Swelling and redness of the scrotum

Abdominal pain

Nausea and vomiting

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17
Q

Which diagnostic method is commonly used to confirm testicular torsion?

A) Physical examination

B) Scrotal ultrasound

C) MRI

D) Blood tests

A

B) Scrotal ultrasound

Explanation: Scrotal ultrasound is commonly used to confirm testicular torsion by assessing blood flow to the testicle.

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18
Q

What is the primary treatment for testicular torsion?

A) Antibiotics

B) Manual detorsion

C) Observation

D) Hormonal therapy

A

B) Manual detorsion

Explanation: Manual detorsion is performed to untwist the spermatic cord, followed by surgical fixation to prevent recurrence

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19
Q

True or False: Immediate treatment of testicular torsion generally results in a good prognosis.

A

True

Explanation: With prompt treatment, the testicle can often be saved, and the prognosis is generally good.

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20
Q

What are potential complications of untreated testicular torsion?

A

Testicular necrosis

Infertility

Hormonal imbalances

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21
Q

Which of the following is a preventive measure for testicular torsion?

A) Regular physical examinations

B) Wearing protective gear during sports

C) Avoiding cold environments

D) All of the above

A

D) All of the above

Explanation: Regular physical examinations, wearing protective gear during sports, and avoiding cold environments can help prevent testicular torsion.

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22
Q

Which condition should be considered in the differential diagnosis of testicular torsion?

A) Epididymitis

B) Inguinal hernia

C) Torsion of the appendix testis

D) All of the above

A

D) All of the above

Explanation: Conditions such as epididymitis, inguinal hernia, and torsion of the appendix testis should be considered when diagnosing testicular torsion.

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23
Q

True or False: Support groups and educational resources are beneficial for families managing a child with testicular torsion.

A

True

Explanation: Support groups and educational resources provide valuable information and emotional support for families.

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24
Q

What is premature sexual development in pediatrics?

A

Premature sexual development, or precocious puberty, is the early onset of puberty, marked by the development of secondary sexual characteristics before the typical age range—before age 8 in girls and before age 9 in boys

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25
Q

Which of the following is a common cause of precocious puberty?

A) Idiopathic

B) Brain tumors

C) Hormonal disorders

D) All of the above

A

D) All of the above

Explanation: Precocious puberty can result from various causes, including idiopathic factors, brain tumors, and hormonal disorders.

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26
Q

What are common symptoms of precocious puberty?

A

Early development of breasts in girls

Early growth of facial hair in boys

Rapid growth and increased height

Advanced bone age

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27
Q

Which diagnostic test is commonly used to evaluate precocious puberty?

A) MRI of the brain

B) Blood tests for hormone levels

C) Bone age X-ray

D) All of the above

A

D) All of the above

Explanation: Diagnosis often involves imaging studies like MRI to check for brain tumors, blood tests to assess hormone levels, and X-rays to determine bone age

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28
Q

What is the primary treatment for central precocious puberty?

A) Hormone therapy

B) Surgery

C) Observation

D) Antibiotics

A

A) Hormone therapy

Explanation: The main treatment for central precocious puberty is hormone therapy to delay further sexual development.

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29
Q

True or False: Early treatment of precocious puberty can help achieve normal adult height.

A

True

Explanation: Early intervention can help prevent premature closure of growth plates, allowing for normal adult height

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30
Q

What are potential complications of untreated precocious puberty?

A

Short stature due to early closure of growth plates

Emotional and psychological challenges

Increased risk of certain health conditions

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31
Q

Which condition should be considered in the differential diagnosis of precocious puberty?

A) Hyperthyroidism

B) Adrenal disorders

C) McCune-Albright syndrome

D) All of the above

A

D) All of the above

Explanation: Conditions such as hyperthyroidism, adrenal disorders, and McCune-Albright syndrome should be considered when diagnosing precocious puberty.

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32
Q

Which of the following is a preventive measure for precocious puberty?

A) Regular physical examinations

B) Early detection and treatment

C) Healthy lifestyle choices

D) All of the above

A

D) All of the above

Explanation: Regular check-ups, early detection, and maintaining a healthy lifestyle can help prevent or manage precocious puberty.

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33
Q

True or False: Support groups and educational resources are beneficial for families managing a child with precocious puberty.

A

True

Explanation: Support groups and educational resources provide valuable information and emotional support for families.

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34
Q

What is hypothyroidism in children?

A

Hypothyroidism in children is a condition where the thyroid gland does not produce enough thyroid hormones, affecting growth, development, and metabolism

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35
Q

Which of the following is a common cause of hypothyroidism in children?

A) Autoimmune thyroiditis

B) Iodine deficiency

C) Congenital absence of the thyroid gland

D) All of the above

A

D) All of the above

Explanation: Hypothyroidism in children can result from autoimmune thyroiditis, iodine deficiency, or congenital absence of the thyroid gland.

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36
Q

What are common symptoms of hypothyroidism in children?

A

Slowed growth

Delayed puberty

Fatigue

Constipation

Dry skin

Dry, brittle hair

Weight gain

Puffy face

Swollen hands and feet

Poor muscle tone

Sluggishness, sleepiness

Dry, itchy scalp

Hoarse cry or voice

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37
Q

Which test is commonly used to diagnose hypothyroidism in children?

A) Serum TSH and free T4 levels

B) Serum calcium levels

C) Complete blood count

D) Liver function tests

A

A) Serum TSH and free T4 levels

Explanation: Measuring serum TSH and free T4 levels is essential for diagnosing hypothyroidism in children.

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38
Q

What is the primary treatment for hypothyroidism in children?

A) Antithyroid medications

B) Levothyroxine replacement therapy

C) Radioactive iodine therapy

D) Surgery

A

B) Levothyroxine replacement therapy

Explanation: The main treatment for hypothyroidism in children is levothyroxine replacement therapy to normalize thyroid hormone levels.

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39
Q

True or False: With appropriate treatment, children with hypothyroidism can lead normal lives.

A

True

Explanation: With proper treatment, children with hypothyroidism can achieve normal growth and development.

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40
Q

What are potential complications of untreated hypothyroidism in children?

A

Growth failure

Developmental delays

Cognitive impairments

Myxedema coma (in severe cases)

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41
Q

Which condition should be considered in the differential diagnosis of hypothyroidism in children?

A) Growth hormone deficiency

B) Celiac disease

C) Iron deficiency anemia

D) All of the above

A

D) All of the above

Explanation: Conditions such as growth hormone deficiency, celiac disease, and iron deficiency anemia should be considered when diagnosing hypothyroidism in children.

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42
Q

Which of the following is a preventive measure for hypothyroidism in children?

A) Ensuring adequate iodine intake

B) Regular thyroid function screening

C) Early detection and treatment

D) All of the above

A

D) All of the above

Explanation: Ensuring adequate iodine intake, regular thyroid function screening, and early detection and treatment are important preventive measures for hypothyroidism in children

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43
Q

True or False: Support groups and educational resources are beneficial for families managing a child with hypothyroidism.

A

True

Explanation: Support groups and educational resources provide valuable information and emotional support for families managing a child with hypothyroidism.

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44
Q

What is gonadotropin deficiency in children?

A

Gonadotropin deficiency in children is a condition characterized by insufficient production of LH and FSH, leading to delayed or absent puberty and potential infertility.

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45
Q

Which of the following is a common cause of gonadotropin deficiency in children?

A) Genetic mutations

B) Pituitary tumors

C) Head trauma

D) All of the above

A

D) All of the above

Explanation: Gonadotropin deficiency can result from genetic mutations, pituitary tumors, or head trauma.

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46
Q

What are common symptoms of gonadotropin deficiency in children?

A

Delayed or absent puberty

Short stature

Micropenis in males

Amenorrhea in females

Infertility

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47
Q

Which test is commonly used to diagnose gonadotropin deficiency in children?

A) Serum testosterone and estradiol levels

B) Serum LH and FSH levels

C) Serum prolactin levels

D) Serum cortisol levels

A

B) Serum LH and FSH levels

Explanation: Measuring serum LH and FSH levels is essential for diagnosing gonadotropin deficiency in children.

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48
Q

What is the primary treatment for gonadotropin deficiency in children?

A) Hormone replacement therapy

B) Surgery

C) Chemotherapy

D) Radiation therapy

A

A) Hormone replacement therapy

Explanation: The main treatment for gonadotropin deficiency in children is hormone replacement therapy to induce puberty and maintain sexual function

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49
Q

True or False: With appropriate treatment, children with gonadotropin deficiency can achieve normal sexual development and fertility.

A

True

Explanation: With proper treatment, children with gonadotropin deficiency can achieve normal sexual development and fertility.

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50
Q

What are potential complications of untreated gonadotropin deficiency in children?

A

Infertility

Osteoporosis

Cardiovascular issues

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51
Q

Which condition should be considered in the differential diagnosis of gonadotropin deficiency in children?

A) Constitutional delay of growth and puberty

B) Klinefelter syndrome

C) Turner syndrome

D) All of the above

A

D) All of the above

Explanation: Conditions such as constitutional delay of growth and puberty, Klinefelter syndrome, and Turner syndrome should be considered when diagnosing gonadotropin deficiency in children.

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52
Q

Which of the following is a preventive measure for gonadotropin deficiency in children?

A) Genetic counseling

B) Regular endocrine screening

C) Early detection and treatment

D) All of the above

A

D) All of the above

Explanation: Genetic counseling, regular endocrine screening, and early detection and treatment are important preventive measures for gonadotropin deficiency in children

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53
Q

True or False: Support groups and educational resources are beneficial for families managing a child with gonadotropin deficiency.

A

True

Explanation: Support groups and educational resources provide valuable information and emotional support for families managing a child with gonadotropin deficiency. v

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54
Q

Kallmann Syndrome

A

-genetic disorder causing hypogonadotrophic hypogonaidism, occurs in males and females but males>. causes reduced GnRH

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55
Q

Presentation of Kallmann Syndrome

A

-absent or delayed puberty, lack of sense of smell, can have hearing loss and a cleft palate

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56
Q

Management of Kallmann Syndrome

A

testosterone replacement for males, oestrogen and progesterone for females, GnRH injections and HCG injections

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57
Q

What is Kallmann syndrome?

A

Kallmann syndrome is a rare genetic condition characterized by hypogonadotropic hypogonadism (delayed or absent puberty due to low levels of gonadotropins) and anosmia (reduced or absent sense of smell).

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58
Q

What causes Kallmann syndrome?

A

Kallmann syndrome is caused by a failure of GnRH neurons to migrate from the olfactory placode to the hypothalamus during embryonic development. This is often associated with genetic mutations affecting genes such as KAL1, FGFR1, or others.

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59
Q

What is the inheritance pattern of Kallmann syndrome?

A

Kallmann syndrome can follow X-linked, autosomal dominant, or autosomal recessive inheritance patterns, depending on the genetic mutation involved.

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60
Q

What are the primary clinical features of Kallmann syndrome?

A

Delayed or absent puberty (hypogonadotropic hypogonadism)
Anosmia or hyposmia (absent or reduced sense of smell)
Additional features: cryptorchidism, micropenis, cleft palate, unilateral renal agenesis, and hearing loss.

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61
Q

How is Kallmann syndrome diagnosed?

A

Diagnosis is based on clinical features (delayed puberty and anosmia), biochemical tests showing low gonadotropins and sex hormones, and genetic testing to identify mutations.

62
Q

How is Kallmann syndrome treated?

A

Hormonal replacement therapy to induce and maintain secondary sexual characteristics.
Fertility treatment with gonadotropins or pulsatile GnRH if required.

63
Q

Kallmann syndrome is caused by defective migration of __________ neurons during embryonic development.

A

GnRH

64
Q

The two hallmark features of Kallmann syndrome are __________ and __________.

A

Hypogonadotropic hypogonadism; anosmia

65
Q

Mutations in the __________ gene are associated with X-linked Kallmann syndrome.

A

KAL1

66
Q

The management of Kallmann syndrome involves __________ replacement therapy to induce puberty.

A

Hormonal.

67
Q

What is the primary hormone deficiency in Kallmann syndrome?
A. Growth hormone
B. GnRH
C. Thyroxine
D. Cortisol

A

B. GnRH

68
Q

Which of the following is NOT a feature of Kallmann syndrome?
A. Anosmia
B. Delayed puberty
C. Hypergonadotropic hypogonadism
D. Cryptorchidism

A

C. Hypergonadotropic hypogonadism

69
Q

Which investigation is most helpful in confirming a diagnosis of Kallmann syndrome?
A. MRI of the brain
B. Serum gonadotropins and sex hormones
C. Genetic testing
D. All of the above

A

D. All of the above

70
Q

T/F: Kallmann syndrome always follows an X-linked inheritance pattern.

A
71
Q

T/F: A reduced or absent sense of smell is a key diagnostic feature of Kallmann syndrome.

A

t

72
Q

T/F: Hormonal therapy can induce fertility in patients with Kallmann syndrome.

A

True

73
Q

A 16-year-old boy presents with delayed puberty and an inability to smell. Examination reveals no testicular development (Tanner stage 1). Hormonal studies show low LH, FSH, and testosterone levels.
Q: What is the likely diagnosis, and how should this condition be managed?

A

Likely diagnosis: Kallmann syndrome. Management includes hormonal replacement therapy (testosterone) to induce puberty and fertility treatment with gonadotropins or pulsatile GnRH if needed.

74
Q

Arrange the steps in the pathophysiology of Kallmann syndrome:
A. Genetic mutation in KAL1, FGFR1, or other genes
B. Failure of GnRH neuron migration from the olfactory placode to the hypothalamus
C. Deficiency of gonadotropins (LH and FSH)
D. Impaired gonadal function and delayed puberty

A

A → B → C → D

75
Q

What is the inheritance pattern of KAL1

A

X linked

76
Q

What is the inheritance pattern of FGRF1

A

Autosomal dominant inheritance

77
Q

What is the inheritance pattern of PROKR2

A

Autosomal recessive inheritance

78
Q

What are the pros and cons of genetic testing in Kallmann syndrome?

A

Pros:

Confirms the diagnosis.
Identifies the inheritance pattern for family counseling.
Can guide treatment options.
Cons:

Expensive and not always accessible.
Genetic mutations may not always be identified.

79
Q

Why is it important to differentiate Kallmann syndrome from constitutional delay of growth and puberty?

A

Kallmann syndrome requires hormonal replacement therapy for puberty induction, while constitutional delay is a self-limiting condition that resolves spontaneously.

80
Q

Give an example of a non-reproductive feature seen in Kallmann syndrome

A

Anosmia (loss of smell) due to defective olfactory bulb development.

81
Q

What are hypothalamic tumours?

A

Hypothalamic tumours are growths that arise in or near the hypothalamus, a region of the brain responsible for regulating vital functions such as temperature, hunger, thirst, sleep, and hormonal balance.

82
Q

What are common types of hypothalamic tumours in children?

A

Craniopharyngiomas
Gliomas
Hamartomas
Germ cell tumours

83
Q

What are the main clinical features of hypothalamic tumours?

A

Endocrine dysfunction: growth hormone deficiency, precocious or delayed puberty, diabetes insipidus.
Visual disturbances: due to proximity to the optic chiasm.
Neurological symptoms: headaches, seizures, hydrocephalus.
Behavioural changes: irritability, aggression, or drowsiness.

84
Q

How are hypothalamic tumours diagnosed?

A

Imaging: MRI or CT scan to visualize the tumour.
Hormonal studies: assessing pituitary and hypothalamic function.
Biopsy: to determine the type of tumour.

85
Q

What are the treatment options for hypothalamic tumours?

A

Surgery: for tumour removal or biopsy.
Radiotherapy: for tumour control or recurrence.
Chemotherapy: for certain types like gliomas or germ cell tumours.
Hormonal replacement therapy: for endocrine deficits.

86
Q

The hypothalamus is responsible for regulating __________, __________, and hormonal balance.

A

temperature; hunger

87
Q

The most common hypothalamic tumour in children is __________.

A

craniopharyngioma

88
Q

Tumours near the hypothalamus often cause __________ dysfunction and __________ disturbances.

A

endocrine; visual

89
Q

MRI or __________ is the imaging modality of choice for hypothalamic tumours.

A

CT Scan

90
Q

Which of the following is NOT a symptom of hypothalamic tumours?
A. Precocious puberty
B. Growth hormone deficiency
C. Hyperactivity
D. Visual disturbances

A

C. Hyperactivity

91
Q

What is the first-line imaging investigation for hypothalamic tumours?
A. Ultrasound
B. MRI
C. PET scan
D. X-ray

A

B. MRI

92
Q

Which of the following is a treatment for hormone deficiencies caused by hypothalamic tumours?
A. Radiotherapy
B. Hormonal replacement therapy
C. Chemotherapy
D. Surgery

A

B. Hormonal replacement therapy

93
Q

T/F: Hypothalamic tumours commonly cause visual disturbances due to proximity to the optic chiasm.

A

True

94
Q

T/F: Craniopharyngiomas are a rare cause of hypothalamic tumours.

A
95
Q

T/F: Surgery is always curative for hypothalamic tumours.

A
96
Q

A 10-year-old child presents with delayed growth, visual impairment, and increased thirst and urination. Imaging reveals a mass in the hypothalamic region.
Q: What is the likely diagnosis, and how should it be managed?

A

Likely diagnosis: Hypothalamic tumour, potentially a craniopharyngioma. Management involves imaging, possible biopsy, surgery for tumour removal, and hormonal therapy to address endocrine dysfunctions.

97
Q

Arrange the steps in the clinical approach to a suspected hypothalamic tumour:
A. Perform imaging studies (MRI or CT).
B. Assess pituitary and hypothalamic hormone levels.
C. Conduct a biopsy if necessary.
D. Initiate appropriate treatment (surgery, radiotherapy, hormonal therapy).

A

A → B → C → D

98
Q

Craniopharyngioma

A

Cystic tumour often causing endocrine dysfunction.

99
Q

Glioma

A

Tumour arising from glial cells, often infiltrative.

100
Q

Hamartoma

A

Benign growth often associated with precocious puberty.

101
Q

Germ cell tumour

A

Tumour often producing markers like AFP or β-hCG.

102
Q

What are the pros and cons of surgical treatment for hypothalamic tumours?

A

Pros:

Potentially curative.
Provides a tissue diagnosis.
Relieves mass effect symptoms (e.g., hydrocephalus).
Cons:

Risk of damage to surrounding structures (e.g., optic chiasm, pituitary).
May not completely remove infiltrative tumours.
Requires post-operative hormonal replacement.

103
Q

Why is it crucial to address hormonal deficiencies in children with hypothalamic tumours?

A

Hormonal deficiencies can lead to delayed growth, developmental issues, and metabolic imbalances, significantly impacting the child’s quality of life and long-term health outcomes.

104
Q

Provide an example of an endocrine dysfunction seen in hypothalamic tumours.

A

Diabetes insipidus due to a lack of antidiuretic hormone (ADH).

105
Q

What is Congenital Adrenal Hyperplasia (CAH)?

A

CAH is a group of autosomal recessive disorders caused by enzyme deficiencies in the adrenal steroidogenesis pathway, leading to impaired cortisol production and, in some cases, aldosterone deficiency and androgen excess.

106
Q

What is the most common enzyme deficiency in CAH?

A

21-hydroxylase deficiency, accounting for over 90% of cases.

107
Q

What are the clinical features of classic CAH?

A

Virilization in females (ambiguous genitalia).
Salt-wasting crisis in infancy (vomiting, dehydration, hypotension).
Early puberty or rapid growth in both sexes.
Short adult stature due to premature epiphyseal closure.

108
Q

What are the two main forms of CAH?

A

Classic CAH (includes salt-wasting and simple virilizing forms).
Non-classic (late-onset) CAH.

109
Q

How is CAH diagnosed?

A

Elevated 17-hydroxyprogesterone (17-OHP) levels in serum.
Genetic testing to confirm enzyme mutation.
Newborn screening programs in many countries.

110
Q

What is the treatment for CAH?

A

Glucocorticoid replacement (e.g., hydrocortisone).
Mineralocorticoid replacement (e.g., fludrocortisone) for salt-wasting forms.
Sodium supplementation in infancy.
Surgery for virilized genitalia if indicated.

111
Q

The most common form of CAH is caused by a deficiency in the __________ enzyme.

A

21-hydroxylase

112
Q

Classic CAH can present with a __________ crisis in infancy due to aldosterone deficiency.

A

salt-wasting

113
Q

Elevated levels of __________ are a hallmark of CAH on newborn screening.

A

17-hydroxyprogesterone (17-OHP)

114
Q

Treatment for CAH typically includes lifelong __________ and __________ replacement.

A

glucocorticoid; mineralocorticoid

115
Q

Which of the following is NOT a feature of classic CAH?
A. Ambiguous genitalia in females
B. Hypertension in infancy
C. Early puberty
D. Salt-wasting crisis

A

B. Hypertension in infancy

116
Q

What is the primary aim of glucocorticoid therapy in CAH?
A. Increase aldosterone production
B. Suppress excessive androgen production
C. Cure the disorder
D. Prevent virilization

A

B. Suppress excessive androgen production

117
Q

Which test is most commonly used in newborn screening for CAH?
A. Serum cortisol levels
B. Plasma renin activity
C. 17-hydroxyprogesterone levels
D. Genetic sequencing

A

C. 17-hydroxyprogesterone levels

118
Q

T/F: Non-classic CAH is usually detected in the newborn period.

A
119
Q

T/F: Salt-wasting CAH is life-threatening if untreated.

A

t

120
Q

T/F: CAH is an autosomal dominant disorder.

A
121
Q

A 2-week-old female infant presents with vomiting, poor feeding, and dehydration. Examination reveals ambiguous genitalia, and serum electrolytes show hyponatremia and hyperkalemia.
Q: What is the likely diagnosis, and what steps should be taken?

A

Likely diagnosis: Classic salt-wasting CAH. Steps:

Confirm diagnosis with elevated 17-OHP levels.
Start glucocorticoid (hydrocortisone) and mineralocorticoid (fludrocortisone) therapy.
Provide sodium supplementation.

122
Q

Arrange the steps in managing a salt-wasting crisis in CAH:
A. Administer IV fluids and correct electrolytes.
B. Confirm the diagnosis with laboratory tests.
C. Start glucocorticoid and mineralocorticoid therapy.
D. Educate parents about long-term management.

A

A → B → C → D

123
Q

What are the pros and cons of surgical management for ambiguous genitalia in CAH?

A

Pros:

Improves genital appearance.
Reduces psychological distress.
Facilitates urinary and sexual function.
Cons:

Risk of surgical complications.
Ethical concerns about performing surgery in infancy.
Potential need for further surgeries later in life.

124
Q

Why is lifelong monitoring essential for patients with CAH?

A

Lifelong monitoring ensures appropriate hormone replacement, prevents adrenal crises, and manages complications such as growth abnormalities and fertility issues.

125
Q

Provide an example of a late presentation of CAH.

A

A teenager with non-classic CAH may present with irregular menstrual cycles, hirsutism, and acne due to androgen excess.

126
Q

Androgen Insensitivity Syndrome - 2 types

A

Partial + complete

127
Q

Complete Androgen Insensitivity Syndrome

A

Appears female at birth

128
Q

Partial Androgen Insensitivity Syndrome

A

May appear as male or female or indiscriminate

129
Q

Inheritance of Androgen Insensitivity Syndrome

A

Male chromosomes. X-linked condition

130
Q

Features of Androgen Insensitivity Syndrome

A

-Tall statue during puberty, infertile, amenorrhoea, shallow vagina, undescended testes, little pubic hair

131
Q

Management of Androgen Insensitivity Syndrome

A

removal of testes, hormone therapy

132
Q

Complications of Androgen Insensitivity Syndrome

A

: high risk of gonadoblastomas due to testes being inside abdomen

133
Q

What is the definition of obesity in children?

A

Obesity in children is defined as a body mass index (BMI) at or above the 95th percentile for children of the same age and sex based on growth charts.

134
Q

What are some common causes of paediatric obesity?

A

Excess calorie intake relative to expenditure.
Genetic predisposition.
Endocrine disorders (e.g., hypothyroidism, Cushing’s syndrome).
Medications (e.g., corticosteroids).
Psychological factors.
Sedentary lifestyle and lack of physical activity.

135
Q

What complications are associated with paediatric obesity?

A

Type 2 diabetes mellitus.
Hypertension and dyslipidaemia.
Non-alcoholic fatty liver disease (NAFLD).
Obstructive sleep apnoea.
Orthopaedic issues (e.g., slipped capital femoral epiphysis).
Psychological issues (e.g., low self-esteem, depression).

136
Q

What are the key components of managing paediatric obesity?

A

Dietary modifications.
Increased physical activity.
Behavioural therapy.
Family involvement in lifestyle changes.
Screening for and managing complications.

137
Q

Obesity in children is defined as a BMI at or above the __________ percentile for age and sex.

A

95th

138
Q

The most common endocrine disorder linked to obesity is __________.

A

hypothyroidism

139
Q

Non-alcoholic __________ disease is a liver complication associated with paediatric obesity.

A

fatty

140
Q

Key management of paediatric obesity includes __________ modifications and increased __________ activity.

A

dietary; physical

141
Q

Which of the following is NOT a complication of paediatric obesity?
A. Type 2 diabetes mellitus
B. Hypertension
C. Celiac disease
D. Non-alcoholic fatty liver disease

A

C. Celiac disease

142
Q

What is the most important first step in managing paediatric obesity?
A. Prescribing weight loss medication
B. Identifying and addressing lifestyle factors
C. Performing bariatric surgery
D. Referral to endocrinology

A

B. Identifying and addressing lifestyle factors

143
Q

Which of the following is a common psychological complication of paediatric obesity?
A. Increased energy levels
B. Enhanced social relationships
C. Low self-esteem
D. Improved academic performance

A

C. Low self-esteem

144
Q

T/F: Paediatric obesity is primarily caused by endocrine disorders.

A
145
Q

T/F: Family involvement is critical for successful obesity management in children.

A

t

146
Q

T/F: Obesity increases the risk of developing type 2 diabetes and cardiovascular disease later in life.

A

t

147
Q

A 10-year-old child presents with a BMI in the 97th percentile. They have a sedentary lifestyle, consume a diet high in sugary drinks and processed foods, and experience bullying at school.
Q: What would be your approach to management?

A

Educate the family about healthy eating habits.
Encourage physical activity (e.g., at least 60 minutes daily).
Address psychological concerns, including bullying, with counselling if needed.
Screen for complications like diabetes and hypertension.

148
Q

Arrange the steps in evaluating a child with obesity:
A. Obtain a detailed dietary and physical activity history.
B. Assess BMI using age-appropriate growth charts.
C. Screen for obesity-related complications (e.g., blood pressure, liver function).
D. Discuss a management plan with the family.

A

B → A → C → D

149
Q

What are the pros and cons of bariatric surgery in paediatric obesity?

A

Pros:

Significant and sustained weight loss in severely obese adolescents.
Improvement in obesity-related complications like diabetes.
Cons:

Risk of surgical complications.
Nutritional deficiencies post-surgery.
Limited data on long-term outcomes in children.

150
Q

Why is addressing childhood obesity a public health priority?

A

Childhood obesity increases the risk of lifelong health complications, including metabolic syndrome and cardiovascular diseases, placing a significant burden on healthcare systems. Early intervention can prevent these outcomes and improve quality of life.

151
Q

Provide an example of how family lifestyle influences paediatric obesity.

A

A family that consumes fast food regularly and spends most evenings watching television is more likely to have a child with obesity due to poor diet and lack of physical activity.

Phase 3a - Paediactrics (17 decks)

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