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Question 1
Incorrect
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A 5 year old girl presents with reduced consciousness and metabolic acidosis. Additionally, her mother says that she had abdominal pain, vomiting, thirst, and weight loss, and is now worried that the girl's twin brother will present with the same illness. Which of the following represents the highest chance of the brother presenting with the same illness?
Your Answer: HLA DR3 genotype
Correct Answer: HLA DR3/DR4 genotype
Explanation:HLA-DR (3 and 4) have been associated with an increased risk for idiopathic diabetes mellitus.
Type 1 diabetes has a high heritability compared to type 2
Identical twins have a 30-50% risk if their twin has type 1 diabetes -
This question is part of the following fields:
- Endocrinology
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Question 2
Incorrect
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A 10-year-old girl with type-1 diabetes mellitus presents with vomiting and rapid breathing. A diagnosis of acute diabetic ketoacidosis was made.
Which among the following statements is true about this condition?Your Answer: Hypokalaemia is common
Correct Answer: Boluses of insulin are recommended
Explanation:Among the statements provided, boluses of insulin are given to treat diabetic ketoacidosis (DKA).
The following methods are adopted for the treatment of DKA:
– Fluids: Boluses of 10 ml/kg of normal saline. Stop at three boluses to avoid precipitating cerebral oedema. The remaining deficit has to be corrected over 48 hours.
Strict input/output, U&E, and pH monitoring is necessary in such patients.
– Insulin: Insulin infusion can be initiated at 0.05-0.1 unit/kg/hour. It is essential to monitor blood glucose closely, and the aim is to decrease by 2 mmol/hour.
– Potassium: Initially, it will be high, but following insulin administration, the levels drop quickly as K+ enters cells with glucose, and thus, replacement is almost always necessary.
– Acidosis: Bicarbonate is avoided unless pH is less than 7. Acidosis will get corrected with the correction of fluid and insulin deficits. The definitive treatment is directed towards correcting the underlying precipitants of DKA, e.g. sepsis, infections. -
This question is part of the following fields:
- Endocrinology
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Question 3
Incorrect
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Which among the following is a type of acquired anterior pituitary disorder?
Your Answer:
Correct Answer: Pituitary adenoma
Explanation:Among the given options, pituitary adenoma is an acquired anterior pituitary disorder which represent between 10 and 25% of all intracranial neoplasms.
Other options:
– Agenesis of the corpus callosum is characterised by the partial or complete absence of the corpus callosum. This condition is associated with pituitary hormone deficiencies.
– Congenital disorders such as hydrocephalus or arachnoid cysts may be a cause of precocious puberty.
– Pituitary hypoplasia and septo-optic dysplasia are congenital disorders of the pituitary gland. -
This question is part of the following fields:
- Endocrinology
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Question 4
Incorrect
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A 15-year-old boy presents with poor development of secondary sex characteristics, colour blindness and a decreased sense of smell. On examination, his testes are small soft and located in the scrotum.
What is the most probable diagnosis?Your Answer:
Correct Answer: Kallmann's syndrome
Explanation:Classic Kallmann syndrome (KS) is due to isolated hypogonadotropic hypogonadism. Most patients have gonadotropin-releasing hormone (GnRH) deficiency, as suggested by their response to pulsatile GnRH therapy. The hypothalamic-pituitary function is otherwise normal in most patients, and hypothalamic-pituitary imaging reveals no space-occupying lesions. By definition, either anosmia or severe hyposmia is present in patients with Kallmann syndrome.
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This question is part of the following fields:
- Endocrinology
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Question 5
Incorrect
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All of the following are disorders of the supra-renal glands except:
Your Answer:
Correct Answer: Di-George syndrome
Explanation:Among the given options, Di-George syndrome is not associated with adrenal gland disorders.
Di-George syndrome is characterised by distinct facial features (micrognathia, cleft palate, short philtrum, and low-set ears), hypocalcaemia, mental retardation, cardiac defects (especially tetralogy of Fallot), and immune deficiencies.
A useful memory aid is CATCH-22:
– Cardiac defects
– Abnormal facial features
– Thymic aplasia/hypoplasia
– Cleft palate
– Hypocalcaemia/Hypoparathyroidism
– 22 – Due to 22q11 deletionOther options:
– Addison’s disease is a result of adrenal hypofunction and may present with collapse secondary to a salt-losing crisis.
– Congenital adrenal hyperplasia: CAH is caused by the deficiency of an enzyme (classically 21-hydroxylase deficiency) in the biosynthetic pathway in the adrenal cortex, leading to insufficient production of cortisol and aldosterone, and a build-up of 17-hydroxyprogesterone.
– Cushing’s syndrome is a syndrome of cortisol excess. An adrenal tumour is a primary cause.
– Pheochromocytoma is a catecholamine releasing tumour of the adrenal gland/s. -
This question is part of the following fields:
- Endocrinology
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Question 6
Incorrect
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A 17-year-old Jewish girl presents with primary amenorrhoea. On examination, she looks a little hirsute and has evidence of facial acne. She is within her predicted adult height and has normal breast and external genitalia development, however, there is excess hair over her lower abdomen and around her nipple area.
Investigations were as follows:
Hb 13.1 g/dl
WCC 8.6 x109/l
PLT 201 x109/l
Na+ 139 mmol/l
K+ 4.5 mmol/l
Creatinine 110 µmol/l
17-OH progesterone 1.4 times the upper limit of normal
Pelvic ultrasound: bilateral ovaries and uterus visualised.
Which of the following is the most likely diagnosis?Your Answer:
Correct Answer: Non-classical congenital adrenal hyperplasia
Explanation:Mild deficiencies of 21-hydroxylase or 3-beta-hydroxysteroid dehydrogenase activity may present in adolescence or adulthood with oligomenorrhea, hirsutism, and/or infertility. This is termed nonclassical adrenal hyperplasia.
Late-onset or nonclassical congenital adrenal hyperplasia (NCAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders. Reported prevalence ranges from 1 in 30 to 1 in 1000. Affected individuals typically present due to signs and symptoms of androgen excess.
Treatment needs to be directed toward the symptoms. Goals of treatment include normal linear growth velocity, a normal rate of skeletal maturation, ‘on-time’ puberty, regular menstrual cycles, prevention of or limited progression of hirsutism and acne, and fertility. Treatment needs to be individualized and should not be initiated merely to decrease abnormally elevated hormone concentrations.
Normal Ultrasound rules out Turner’s syndrome. -
This question is part of the following fields:
- Endocrinology
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Question 7
Incorrect
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A 40-week-old baby presented with a weak cry and failure to thrive. The mother gives a history of prolonged neonatal jaundice and says it is common in her family. On examination, a large tongue was noticed. What is the most likely diagnosis?
Your Answer:
Correct Answer: Congenital hypothyroidism
Explanation:Congenital hypothyroidism is associated with failure to thrive, macroglossia, prolonged jaundice of a new-born and constipation.
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This question is part of the following fields:
- Endocrinology
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Question 8
Incorrect
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A 14-year-old girl presents with primary amenorrhoea. She is an athlete who is currently training for a national athletics championship.
What is the best treatment option for her?Your Answer:
Correct Answer: Adequate diet and observation
Explanation:Intensive physical training and participation in competitive sports during childhood and early adolescence may affect athletes’ pubertal development.
Female athletes who do not begin secondary sexual development by the age of 14 or menstruation by the age of 16 warrant a comprehensive evaluation and treatment.
Since she is still 14, adequate diet and observation are enough. -
This question is part of the following fields:
- Endocrinology
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Question 9
Incorrect
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Regarding precocious puberty, which of the following statements is correct?
Your Answer:
Correct Answer: In about 5% of boys, precocious puberty is inherited from the father
Explanation:Precocious puberty is the attainment of normal pubertal biochemical and physical features at an abnormally earlier age. The age cut-offs commonly used to define precocious puberty are 8 years for females and 9 years for males.
The onset of normal puberty is triggered by gonadotropic-releasing hormones from the hypothalamus.
In most of the familial cases, the condition is transmitted by affected father. In boys, this makes up about 5% of the cases.
Full adult height potential is not achieved in patients of precious puberty, although there is an advanced bone maturation. -
This question is part of the following fields:
- Endocrinology
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Question 10
Incorrect
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A 13-year-old girl presents with short stature, webbed neck, cubitus valgus and primary amenorrhea.
Which of the following hormones is most important for long term replacement?Your Answer:
Correct Answer: Oestrogen
Explanation:This girl most probably has Turner’s syndrome, which is caused by the absence of one set of genes from the short arm of one X chromosome.
Turner syndrome is a lifelong condition and needs lifelong oestrogen replacement therapy. Oestrogen is usually started at age 12-15 years. Treatment can be started with continuous low-dose oestrogens. These can be cycled in a 3-weeks on, 1-week off regimen after 6-18 months; progestin can be added later.In childhood, growth hormone therapy is standard to prevent short stature as an adult.
Fetal ovarian development seems to be normal in Turner syndrome, with degeneration occurring in most cases around the time of birth so pulsatile GnRH and luteinising hormone would be of no use.
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This question is part of the following fields:
- Endocrinology
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Question 11
Incorrect
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A 15-year-old child with learning difficulties is referred to the endocrine clinic for review. His lab results show hypocalcaemia and increased serum concentration of parathyroid hormone. On examination, there is subcutaneous calcification and a short fifth metacarpal in each hand.
What is the treatment of choice in this case?Your Answer:
Correct Answer: Calcium and vitamin D supplementation
Explanation:This child has pseudo hypoparathyroidism. It is a heterogeneous group of rare endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcaemia, hyperphosphatemia, and increased serum concentration of PTH.
Patients with pseudo hypoparathyroidism type 1a present with a characteristic phenotype collectively called Albright hereditary osteodystrophy (AHO). The constellation of findings includes the following:
Short stature
Stocky habitus
Obesity
Developmental delay
Round face
Dental hypoplasia
Brachymetacarpals
Brachymetatarsals
Soft tissue calcification/ossification
The goals of therapy are to maintain serum total and ionized calcium levels within the reference range to avoid hypercalcaemia and to suppress PTH levels to normal. This is important because elevated PTH levels in patients with PHP can cause increased bone remodelling and lead to hyper-parathyroid bone disease.
The goals of pharmacotherapy are to correct calcium deficiency, to prevent complications, and to reduce morbidity. Intravenous calcium is the initial treatment for all patients with severe symptomatic hypocalcaemia. Administration of oral calcium and 1alpha-hydroxylated vitamin D metabolites, such as calcitriol, remains the mainstay of treatment and should be initiated in every patient with a diagnosis of pseudo hypoparathyroidism. -
This question is part of the following fields:
- Endocrinology
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Question 12
Incorrect
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A 13-year-old boy is brought to your clinic with a complaint of delayed puberty.
While examining the patient which of the following features is most likely to indicate that pubertal change may have commenced?Your Answer:
Correct Answer: Increase in testicular volume
Explanation:In boys, the first manifestation of puberty is testicular enlargement; the normal age for initial signs of puberty is 9 to 14 years in males. Pubic hair in boys generally appears 18 to 24 months after the onset of testicular growth and is often conceived as the initial marker of sexual maturation by male adolescents.
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This question is part of the following fields:
- Endocrinology
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Question 13
Incorrect
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Which of the following conditions is associated with hypogonadism in boys?
Your Answer:
Correct Answer: Gigantism
Explanation:Hypogonadism is found to be a feature in gigantism also known as acromegaly, a condition caused by growth hormone abnormalities. The most common cause of gigantism is a pituitary adenoma. Hypogonadism exists among other endocrinopathies found in gigantism. Other causes of hypogonadism include Kleinfelter’s syndrome, which is characterized by premature testicular failure. The other options listed, primary hypothyroidism, teratoma, tuberous sclerosis and hepatoblastoma are all associated with precocious puberty.
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This question is part of the following fields:
- Endocrinology
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Question 14
Incorrect
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A 16-year-old boy is brought to the clinic by his parents who are worried that their son might have delayed puberty. On examination, he has very little pubic hair and the testicular volume is 3ml. Bilateral gynaecomastia is also observed. Which of the following is the most likely diagnosis?
Your Answer:
Correct Answer: Klinefelter's syndrome
Explanation:The most overt phenotypic features of Klinefelter syndrome are caused by testosterone deficiency and, directly or indirectly, by unsuppressed follicle-stimulating and luteinizing hormones. Affected men typically have (in decreasing order of frequency): infertility, small testes, decreased facial hair, gynecomastia, decreased pubic hair, and a small penis. Because of their long legs, men with Klinefelter syndrome often are taller than predicted based on parental height. Body habitus may be feminized. In childhood, when there is a relative quiescence in the hormonal milieu, ascertainment of the syndrome may be difficult because the effects of hypogonadism (i.e., small external genitalia and firm testes) may be subtle or not present at all.
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This question is part of the following fields:
- Endocrinology
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Question 15
Incorrect
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An infant was born yesterday with ambiguous genitalia. Mineralocorticoid deficiency and androgen excess are associated with the suspected diagnosis.
What is the pathophysiology of the diagnosis?
Your Answer:
Correct Answer: Deficiency of 21-alphahydroxylase
Explanation:Congenital adrenal hyperplasia is a common cause of virilisation in females that can present as ambiguous genitalia at birth. Deficiency of the 21-alphahydroxylase enzyme is implicated in excess mineralocorticoid and androgens produced by the adrenal gland. Virilisation occurs when excess androgens are converted to testosterone in a genetically female foetus, causing the genitalia to resemble male genitalia. A deficiency of 5-alpha hydroxylase would rather decrease the production of testosterone and lead to the presentation of external female genitalia in a genetically male foetus.
Autoantibodies against glutamic acid are seen in type 1 diabetes mellitus, while defects in the AIRE gene and the FOXP3 affect components of the immune system.
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This question is part of the following fields:
- Endocrinology
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Question 16
Incorrect
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A 15-year-old girl presents with vomiting and her investigations show:
Sodium 115 mmol/L (137-144)
Potassium 3.0 mmol/L (3.5-4.9)
Urea 2.1 mmol/L (2.5-7.5)
Urine sodium 2 mmol/L
Urine osmolality 750 mosmol/kg (350-1000)
What is the most likely diagnosis?Your Answer:
Correct Answer: Bulimia nervosa
Explanation:The patient is most likely to have Bulimia nervosa. A young girl with a low body mass contributes to the low urea. Hypokalaemia and hyponatraemia are due to vomiting. Her urine sodium is also low.
– In Addison’s diseases, there are low levels of sodium and high levels of potassium in the blood. In acute adrenal crisis: The most consistent finding is elevated blood urea nitrogen (BUN) and creatinine. Urinary and sweat sodium also may be elevated.
– In Syndrome of Inappropriate Antidiuretic Hormone Secretion (SIADH) there is hyponatremia with corresponding hypo-osmolality, continued renal excretion of sodium, urine less than maximally dilute and absence of clinical evidence of volume depletion. -
This question is part of the following fields:
- Endocrinology
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Question 17
Incorrect
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A 6 year old female child with a history of controlled type 1 diabetes, presents with recurrent nightmares due to hypoglycaemia and early morning glycosuria. Her parents are well informed about the child's condition and adjust her insulin requirements according to carbohydrate counting. What is the cause of the hypoglycaemia during the night in association with early morning glycosuria?
Your Answer:
Correct Answer: Somogyi effect
Explanation:Somogyi effect presents with night-time hypoglycaemia followed by early-morning hyperglycaemia, hence the glycosuria.
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This question is part of the following fields:
- Endocrinology
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Question 18
Incorrect
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Which of the following produces the maximum levels of cortisol in the body?
Your Answer:
Correct Answer: Zona fasciculata of the adrenal
Explanation:Zona fasciculata of the adrenal produces the maximum levels of cortisol in the body.
Functions of cortisol:
– Increases blood pressure: permits normal response to angiotensin II and catecholamines by up-regulating alpha-1 receptors on arterioles.
– Inhibits bone formation: decreases osteoblasts, type 1 collagen and absorption of calcium from the gut, and increases osteoclastic activity.
– Increases insulin resistance.
– Increases gluconeogenesis, lipolysis and proteolysis.
– Inhibits inflammatory and immune responses.
– Maintains function of skeletal and cardiac muscle.An excess of corticosteroids in the body causes various symptoms that are a part of Cushing’s syndrome.
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This question is part of the following fields:
- Endocrinology
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Question 19
Incorrect
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A 2 month old baby presents to the clinic with vomiting. On examination he has ambiguous genitalia. The labs are as follows: Na: 125mmol/L, K: 6mmol/L. Which of the following is the most likely diagnosis responsible for this patient's presentation?
Your Answer:
Correct Answer:
Explanation:Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive defects in enzymes that are responsible for cortisol, aldosterone, and, in very rare cases, androgen synthesis. All forms of CAH are characterized by low levels of cortisol, high levels of ACTH, and adrenal hyperplasia. The exact clinical manifestations depend on the enzyme defect. The most common form of CAH, which is caused by a deficiency of 21β-hydroxylase, presents with hypotension, ambiguous genitalia, and virilization (in the female genotype), and/or precocious puberty (in both males and females). It is further characterized by hyponatremia, hyperkalaemia, and metabolic acidosis. Increased levels of 17-hydroxyprogesterone confirm the diagnosis of 21β-hydroxylase deficiency. Treatment of CAH involves lifelong glucocorticoid replacement therapy. Patients with a 21β-hydroxylase deficiency also require mineralocorticoid replacement with fludrocortisone. Complications of CAH include severe hypoglycaemia, adrenal insufficiency, and/or a failure to thrive.
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This question is part of the following fields:
- Endocrinology
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Question 20
Incorrect
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Primary amenorrhea is caused by all of the following EXCEPT?
Your Answer:
Correct Answer: Cushing's syndrome
Explanation:Primary amenorrhea is defined as the total absence of menarche in a girl of 14 years of age if the secondary sexual characteristics are also absent or in a girl of 16 years of age in whom normal secondary sexual characteristics are present. There are multiple causes of primary amenorrhea, but the most common are constitutional delay, imperforate hymen, congenital adrenal hyperplasia, hypothalamic failure, and testicular feminization. Cushing’s syndrome leads to secondary amenorrhea, which is defined as the absence of a menstrual period for 6 consecutive cycles in a girl who has achieved menarche.
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This question is part of the following fields:
- Endocrinology
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Question 21
Incorrect
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A 15-year-old girl is brought to the OBGYN clinic by her mother with primary amenorrhoea and poor pubertal development. Investigations reveal low oestrogen, and high LH and FSH. Which of the following is the most likely diagnosis?
Your Answer:
Correct Answer: Turner's syndrome
Explanation:Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects.
Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood. Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years.
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This question is part of the following fields:
- Endocrinology
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Question 22
Incorrect
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A 17-year-old girl presents to the clinic complaining of dry skin and amenorrhoea for the past 9 months. She goes to college and is performs well academically. Physical examination shows an underweight girl (weight 38 kg), height 1.78 m (5 ft 10 inches). Excessive small hair can be seen growing on the body. Labs are significant for an elevated cortisol level, normal T4 level, and anaemia associated with reduced WBCs and platelets. Based on this clinical picture, what is the most likely cause of her symptoms?
Your Answer:
Correct Answer: Anorexia nervosa
Explanation:Anorexia nervosa is an eating disorder defined by restriction of energy intake relative to requirements, leading to a significantly low body weight. Patients will have an intense fear of gaining weight and distorted body image with the inability to recognize the seriousness of their significantly low body weight. Athletes in sports such as ballet, long-distance running, and martial arts are pressured to maintain lean body weights to outperform the competition.
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This question is part of the following fields:
- Endocrinology
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Question 23
Incorrect
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A 12-year old girl was brought to the hospital with recurrent headaches for 6 months. Her physical examination revealed no abnormality. A CT scan of the head revealed a suprasellar mass with calcifications, eroding the surrounding sella turcica. The lesion is likely to represent:
Your Answer:
Correct Answer: Craniopharyngioma
Explanation:Craniopharyngiomas (also known as Rathke pouch tumours, adamantinomas or hypophyseal duct tumours) affect children mainly between the age of 5 and 10 years. It constitutes 9% of brain tumours affecting the paediatric population. These are slow-growing tumours which can also be cystic, and arise from the pituitary stalk, specifically the nests of epithelium derived from Rathke’s pouch. Histologically, this tumour shows nests of squamous epithelium which is lined on the outside by radially arranged cells. Calcium deposition is often seen with a papillary type of architecture.
ACTH-secreting pituitary adenomas are rare and mostly microadenomas. Paediatric astrocytoma’s usually occur in the posterior fossa. Although null cell adenomas can cause mass effect and give rise to the described symptoms, they are not suprasellar. Prolactinomas can also show symptoms of headache and disturbances in the visual field, however they are known to be small and slow-growing.
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This question is part of the following fields:
- Endocrinology
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Question 24
Incorrect
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Tall stature is NOT a characteristic finding in which of the following conditions?
Your Answer:
Correct Answer: Laurence-Moon Syndrome
Explanation:A height that is above the 97th percentile for age and sex is described as a tall stature. The most common cause of tall stature is constitutional or familial, followed by nutritional causes. Hormonal causes of tall stature include hyperthyroidism, growth hormone excess, and precocious puberty. Some important chromosomal and syndromic causes of tall stature are Klinefelter’s syndrome, homocystinuria, Marfan’s syndrome, Sotos syndrome, Beckwith-Weidman syndrome, and Weaver syndrome. Laurence-Moon syndrome is an autosomal recessive disorder characterized by short stature, retinitis pigmentosa, and spastic paraplegia.
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This question is part of the following fields:
- Endocrinology
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Question 25
Incorrect
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A 7-year-old boy is brought by his parents with an enlarging penis, testes volumes of 4 ml bilaterally, and some sparse hair in his pubic region. His height remains on his usual (2nd) centile. His doctor thinks this is most likely to be due to a pathological cause and investigates further. He finds a delayed bone age.
What is the most probable diagnosis for this boy?Your Answer:
Correct Answer: Primary hypothyroidism
Explanation:The most probable diagnosis for this boy is primary hypothyroidism.
Rationale:
The development of secondary sexual characteristics in a boy aged less than 9 years of age is highly suggestive of precocious puberty.Around 80% of boys with precocious puberty have pathological causes and require detailed investigation.
In this case, the child has long-standing short stature but coupled with the early puberty and delay in bone age, the diagnosis is primary hypothyroidism, which is the only cause of this clinical picture. -
This question is part of the following fields:
- Endocrinology
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Question 26
Incorrect
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A 15-year-old boy is described as having sparse, long, slightly pigmented, downy pubic hair.
What is the present stage of pubic hair development in this boy according to the Tanner system?Your Answer:
Correct Answer: Stage 2
Explanation:Based on the clinical presentation, the pubic hair development is in Tanner stage 2.
The Tanner stages for pubic hair are as follows:
Stage 1 -pre-adolescent
Stage 2 -sparse hair that is long, slightly pigmented and downy
Stage 3 -hair spread over the junction of the pubes, darker and coarser
Stage 4 -adult-type hair, but the area covered is smaller than it is in an adult.
Stage 5 -adult in quantity and type -
This question is part of the following fields:
- Endocrinology
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Question 27
Incorrect
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A short 17-year-old girl with primary amenorrhea has pulmonary stenosis.
What is the most likely diagnosis?Your Answer:
Correct Answer: Noonan's syndrome
Explanation:Noonan syndrome is a condition that affects many areas of the body. It is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.
People with Noonan syndrome have distinctive facial features such as a deep groove in the area between the nose and mouth (philtrum), widely spaced eyes that are usually pale blue or blue-green in colour, and low-set ears that are rotated backwards. Affected individuals may have a high-arched palate, poor teeth alignment, and micrognathia. Many children with Noonan syndrome have a short neck, and both children and adults may have excess neck skin (also called webbing) and a low hairline at the back of the neck.
Between 50 and 70 % of individuals with Noonan syndrome have short stature. At birth, they are usually a normal length and weight, but growth slows over time.
Individuals with Noonan syndrome often have either a pectus excavatum or pectus carinatum. Some affected people may also have scoliosis.
Most people with Noonan syndrome have some form of critical congenital heart disease. The most common heart defect in these individuals is pulmonary valve stenosis. Some have hypertrophic cardiomyopathy.
A variety of bleeding disorders have been associated with Noonan syndrome. Some affected individuals have excessive bruising, nosebleeds, or prolonged bleeding following injury or surgery. Rarely, women with Noonan syndrome who have a bleeding disorder have excessive bleeding during menstruation (menorrhagia) or childbirth.
Adolescent males with Noonan syndrome typically experience delayed puberty. They go through puberty starting at age 13 or 14 and have a reduced pubertal growth spurt that results in shortened stature. Most males with Noonan syndrome have undescended testes (cryptorchidism), which may contribute to infertility (inability to father a child) later in life. Females with Noonan syndrome can experience delayed puberty but most have normal puberty and fertility.
Most children diagnosed with Noonan syndrome have normal intelligence, but a few have special educational needs, and some have an intellectual disability. Some affected individuals have vision or hearing problems. It has been estimated that children with Noonan syndrome have an eightfold increased risk of developing leukaemia or other cancers over age-matched peers. -
This question is part of the following fields:
- Endocrinology
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Question 28
Incorrect
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Which of the following statements is MOST appropriate regarding the features of Graves disease?
Your Answer:
Correct Answer: Association with HLA-DR3
Explanation:Graves disease is an autoimmune disorder in which patients present with thyrotoxicosis and related ophthalmopathy, and dermopathy. Many affected patients experience hyperthyroidism. Peak incidence of graves disease is after the 3rd decade of life and is more common in women than in men. Graves susceptibility is association with HLA-DR3. Clinical features of Graves disease include an increased metabolic rate, heat intolerance, irritability, weight loss despite increasing appetite, diarrhoea palpitations, chemosis, acropachy and onycholysis.
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This question is part of the following fields:
- Endocrinology
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Question 29
Incorrect
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Regarding the thymus, which of the following is true?
Your Answer:
Correct Answer: DiGeorge's syndrome is a developmental abnormality affecting the thymus
Explanation:The thymus is a lymphoid organ located in the anterior mediastinum. In early life, the thymus is responsible for the development and maturation of cell-mediated immunologic functions. The thymus is composed predominantly of epithelial cells and lymphocytes. Precursor cells migrate to the thymus and differentiate into lymphocytes. Most of these lymphocytes are destroyed, with the remainder of these cells migrating to tissues to become T cells.
DiGeorge’s syndrome (DGS) is a developmental abnormality affecting the thymus. The classic triad of features of DGS on presentation is conotruncal cardiac anomalies, hypoplastic thymus, and hypocalcaemia (resulting from parathyroid hypoplasia). -
This question is part of the following fields:
- Endocrinology
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Question 30
Incorrect
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An 8-year-old girl is diagnosed with type-1 diabetes mellitus. She has three regular meals daily. Which of the following is the insulin regimen of choice for this patient?
Your Answer:
Correct Answer: Basal-bolus regimen
Explanation:In older children who are able to have regular meal timings, the insulin regimen of choice is the basal-bolus regimen, which comprises a dose of long-acting insulin in combination with three doses of short-acting insulin. The dosage timings coincide with the meal times, ensuring greater flexibility and feasibility. The long-acting insulin serves to provide a stable glycaemic control. The other given regimens are suitable for younger children with a more irregular meal schedule.
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This question is part of the following fields:
- Endocrinology
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