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Question 1
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A 28-year-old woman visited her GP complaining of low mood, weight gain, and irregular menstrual cycles. The GP conducted some tests and referred her to the hospital. The results of the investigations were as follows:
- Sodium: 150 mmol/l (135–145 mmol/l)
- Potassium: 2.5 mmol/l (3.5–5 mmol/l)
- Fasting blood glucose: 7.7 mmol/l (5–7.2 mmol/l)
- 24-hour urinary cortisol excretion: 840 nmol/24 hours (<300 nmol/24 hours)
- Plasma adrenocorticotropic hormone (ACTH): undetectable
- Dexamethasone suppression test:
- 0800 h serum cortisol after dexamethasone 0.5 mg/6 hours orally (po) for 2 days: 880 nmol/l (<50 nmol/l)
- 0800 h serum cortisol after dexamethasone 2 mg/6 hours po for 2 days: 875 nmol/l (<50 nmol/l)
What is the most probable clinical diagnosis?Your Answer: Adrenocortical tumour
Explanation:Adrenocortical Tumour: Localizing the Source of Excessive Cortisol Production
Cushing’s syndrome is characterized by the overproduction of glucocorticoids, which can lead to weight gain, mood disturbances, and irregular menses. In this case, the patient has proven high 24-hour urinary cortisol excretion, indicating excessive cortisol levels. However, the lack of response to low-dose dexamethasone and the low potassium and high sodium levels suggest that an adrenocortical tumour is the most likely cause.
An adrenocortical tumour results in excess cortisol secretion by the adrenal glands, leading to negative feedback at the pituitary level and very low or undetectable levels of ACTH. This is consistent with the patient’s presentation, ruling out Cushing’s disease, Conn’s syndrome, and acromegaly. Additionally, the absence of detectable ACTH levels rules out paraneoplastic syndrome secondary to small cell carcinoma of the lung.
In conclusion, the patient’s clinical picture and test results suggest an adrenocortical tumour as the source of excessive cortisol production.
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This question is part of the following fields:
- Endocrinology
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Question 2
Incorrect
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A 23-year-old man presents to the Emergency Department after being involved in a fight. He had been in the shower after a gym session, when someone made a derogatory comment about his body, and that started the fight. A history reveals that he has had three girlfriends in the last 3 months, but none of the relationships have lasted. He admits that he struggles to achieve an erection. On examination, the patient is of normal height with normal pubic hair. His penis is small and his breasts are enlarged. He said that he had started growing breasts from the age of 11. This often caused him embarrassment. His blood pressure is 119/73 mmHg.
Which of the following syndromes must be ruled out?Your Answer: Kallmann syndrome
Correct Answer: Reifenstein syndrome
Explanation:Comparing Different Syndromes with Similar Symptoms
When presented with a patient who has female breast development and erectile dysfunction, it is important to consider various syndromes that could be causing these symptoms. One such syndrome is Reifenstein syndrome, which is characterized by partial androgen insensitivity. Another possibility is Turner syndrome, which presents with short stature and amenorrhea in phenotypic females. However, Kallmann syndrome, which includes anosmia as a component, can be ruled out in this case. Similarly, Klinefelter syndrome, which typically results in tall stature and infertility, does not match the patient’s normal height and erectile dysfunction. Finally, 17-α hydroxylase deficiency can be eliminated as a possibility due to the absence of hypertension, which is a common symptom of this enzyme defect. By comparing and contrasting these different syndromes, healthcare professionals can more accurately diagnose and treat patients with similar symptoms.
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This question is part of the following fields:
- Endocrinology
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Question 3
Correct
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A 35-year-old teacher presents at the Thyroid Clinic with a swelling in her neck that has been present for 4 months, along with a weight loss of 5 kg. During examination, a diffuse smooth swelling of the thyroid gland is observed, and she is found to be in atrial fibrillation. Lid lag and proximal myopathy are also noted, along with a rash on the anterior aspects of her legs, indicative of pretibial myxoedema. Which clinical sign is most indicative of Graves' disease as the underlying cause of her hyperthyroidism?
Your Answer: Pretibial myxoedema
Explanation:Most Specific Sign of Graves’ Disease
Graves’ disease is a type of hyperthyroidism that has a classic triad of signs, including thyroid ophthalmopathy, thyroid acropachy, and pretibial myxoedema. Among these signs, pretibial myxoedema is the most specific to Graves’ disease. It is characterized by swelling and lumpiness of the shins and lower legs, and is almost pathognomonic of the condition. Other signs of hyperthyroidism, such as weight loss and diffuse thyroid swelling, are non-specific and may occur with other thyroid diseases. Atrial fibrillation and proximal myopathy may also occur in Graves’ disease, but are not specific to this condition.
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This question is part of the following fields:
- Endocrinology
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Question 4
Incorrect
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A 55-year-old woman is undergoing investigation by her GP for potential issues in her hypothalamic-pituitary-thyroid axis. The following findings were recorded:
Thyroid-stimulating hormone (TSH) 5.2 mu/l (0.4-4.0 mu/l)
fT4 8.0 pmol/l (9.0-26.0 pmol/l)
fT3 3.5 pmol/l (3.0-9.0 pmol/l)
What condition is indicated by these results?Your Answer: Subclinical hypothyroidism
Correct Answer: Hypothyroidism
Explanation:Thyroid Disorders: Understanding the Different Presentations
Thyroid disorders can present with various symptoms and laboratory findings. Here are some of the common presentations of different thyroid disorders:
Hypothyroidism: This condition is characterized by elevated TSH and low fT4 levels. It is more common in females and occurs mainly in middle life. The elevated TSH is due to reduced negative feedback at the level of the pituitary.
Thyroid Hormone Resistance: In this condition, TSH and fT4 levels are raised. Thyroid hormone resistance results in decreased response to a given thyroid hormone, which prompts the thyroid axis to increase TSH and fT4 levels. The patient may not be symptomatic and may even present hypothyroid clinically.
Hyperthyroidism: This condition is characterized by low TSH and usually raised fT4 and fT3 levels.
Pituitary TSH-Secreting Tumour: This condition presents with raised TSH and fT4 levels.
Subclinical Hypothyroidism: This condition presents with elevated TSH but normal fT4 levels.
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This question is part of the following fields:
- Endocrinology
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Question 5
Correct
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A 42-year-old teacher visits her GP, complaining of hot flashes and night sweats. She suspects that she may be experiencing symptoms of menopause. Can you identify which set of results below are consistent with postmenopausal values?
A: FSH (follicular phase 2.9-8.4 U/L) 0.5
LH (follicular phase 1.3-8.4 U/L) 1.1
Oestrogen (pmol/L) 26
Progesterone (pmol/L) <5
B: FSH (follicular phase 2.9-8.4 U/L) 0.5
LH (follicular phase 1.3-8.4 U/L) 1.2
Oestrogen (pmol/L) 120
Progesterone (pmol/L) 18
C: FSH (follicular phase 2.9-8.4 U/L) 68
LH (follicular phase 1.3-8.4 U/L) 51
Oestrogen (pmol/L) 42
Progesterone (pmol/L) <5
D: FSH (follicular phase 2.9-8.4 U/L) 1.0
LH (follicular phase 1.3-8.4 U/L) 0.8
Oestrogen (pmol/L) 250
Progesterone (pmol/L) 120
E: FSH (follicular phase 2.9-8.4 U/L) 8.0
LH (follicular phase 1.3-8.4 U/L) 7.2
Oestrogen (pmol/L) 144
Progesterone (pmol/L) <5Your Answer: C
Explanation:postmenopausal Blood Tests
postmenopausal blood tests often reveal elevated levels of follicle-stimulating hormone (FSH) and luteinizing hormone (LH), as well as low levels of estrogen. These changes in hormone levels are responsible for most of the symptoms associated with menopause, which can be difficult to diagnose. However, once characteristic symptoms are well-established, gonadotrophin levels are typically significantly elevated.
The menopause is defined as the date of a woman’s last period, without further menses for at least a year. As such, the diagnosis can only be made retrospectively. Prior to menopause, women may experience irregular menstruation, heavy bleeding, and mood-related symptoms. While fertility is greatly reduced during this time, there is still some risk of pregnancy, and many healthcare providers recommend continuing contraception for a year after the last menstrual period.
In summary, postmenopausal blood tests can provide valuable information about a woman’s hormone levels and help diagnose menopause. However, it’s important to recognize that menopause is a gradual process that can be accompanied by a range of symptoms. Women should work closely with their healthcare providers to manage these symptoms and ensure their ongoing health and well-being.
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This question is part of the following fields:
- Endocrinology
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Question 6
Incorrect
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A 50-year-old woman presents with symptoms of lethargy, weight gain, dry hair and skin, cold intolerance, constipation and low mood. What is the most probable diagnosis?
Your Answer: Addison’s disease
Correct Answer: Hypothyroidism
Explanation:Understanding Hypothyroidism and Differential Diagnosis
Hypothyroidism is a condition characterized by a range of symptoms, including lethargy, weight gain, depression, sensitivity to cold, myalgia, dry skin, dry hair and/or hair loss, constipation, menstrual irregularities, carpal tunnel syndrome, memory problems, difficulty concentrating, and myxoedema coma. Diagnosis is made by measuring TSH and T4 levels, with elevated TSH and decreased T4 confirming the diagnosis. Treatment involves titrating doses of levothyroxine until serum TSH normalizes and symptoms resolve. Differential diagnosis includes hypercalcaemia, hyperthyroidism, Addison’s disease, and Cushing’s disease, each with their own unique set of symptoms. Understanding these conditions and their symptoms is crucial for accurate diagnosis and effective treatment.
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This question is part of the following fields:
- Endocrinology
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Question 7
Incorrect
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A 65-year-old man with a history of diabetes mellitus complains of a swollen right ankle joint that is not painful. Upon examination, radiographs reveal a joint that has been destroyed and contains a significant number of loose bodies. What is the most likely diagnosis?
Your Answer: Perthes Disease
Correct Answer: Charcot's joint
Explanation:Charcot’s Joint: A Destructive Process Affecting Weight-Bearing Joints
Charcot’s joint is a condition that primarily affects the weight-bearing joints in the extremities, including the feet, ankles, knees, and hips. It is a destructive process that can often be mistaken for an infection in these areas. The condition is characterized by a decreased sensation in the affected area and peripheral neuropathy. It is most commonly associated with diabetes mellitus, leprosy, and tabes dorsalis.
Charcot’s joint is a serious condition that can lead to significant disability if left untreated. It is important to recognize the symptoms and seek medical attention promptly. Treatment typically involves immobilization of the affected joint and management of the underlying condition. With proper care, it is possible to prevent further damage and preserve joint function.
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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 32-year-old woman visits her GP after experiencing sudden hair growth, specifically on her face. She is feeling increasingly self-conscious about it and wants to address the issue. Blood tests were conducted, revealing an elevated testosterone level of 9.8 nmol/l (reference range 0.8-3.1 nmol/l). What is the next course of action in managing her condition?
Your Answer: Refer to Endocrinology routinely for management of her hirsutism
Correct Answer: Refer to Endocrinology as a suspected cancer referral
Explanation:Referral for Suspected Androgen-Secreting Tumour in a Patient with Hirsutism
This patient presents with sudden-onset hair growth and a raised testosterone level, which raises suspicion for an androgen-secreting tumour. An urgent referral for further investigation is necessary to rule out malignancy. While polycystic ovary syndrome can also cause hirsutism, the patient’s testosterone level warrants exclusion of a tumour. Topical eflornithine may provide symptomatic relief, but it is not a substitute for further investigation. Routine referral to endocrinology is not appropriate in this case, as it may delay diagnosis and treatment of a potential malignancy.
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This question is part of the following fields:
- Endocrinology
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Question 9
Incorrect
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A 68-year-old woman presents to the Emergency Department with acute agitation, fever, nausea and vomiting. On examination, she is disorientated and agitated, with a temperature of 40 °C and heart rate of 130 bpm, irregular pulse, and congestive cardiac failure. She has a history of hyperthyroidism due to Graves’ disease, neutropenia and agranulocytosis, and cognitive impairment. She lives alone. Laboratory investigations reveal the following results:
Test Result Normal reference range
Free T4 > 100 pmol/l 11–22 pmol/l
Free T3 > 30 pmol/l 3.5–5 pmol/l
Thyroid stimulating hormone (TSH) < 0.01 µU/l 0.17–3.2 µU/l
TSH receptor antibody > 30 U/l < 0.9 U/l
What should be included in the management plan for this 68-year-old patient?Your Answer: Prednisolone, paracetamol, tri-iodothyronine
Correct Answer: Propylthiouracil, iodine, propranolol, hydrocortisone
Explanation:Treatment Options for Thyroid Storm in Graves’ Disease Patients
Thyroid storm is a life-threatening condition that requires immediate medical attention in patients with Graves’ disease. The following are some treatment options for thyroid storm and their potential effects on the patient’s condition.
Propylthiouracil, iodine, propranolol, hydrocortisone:
This combination of medications can help inhibit the synthesis of new thyroid hormone, tone down the severe adrenergic response, and prevent T4 from being converted to the more potent T3. Propylthiouracil and iodine block the synthesis of new thyroid hormone, while propranolol and hydrocortisone help decrease the heart rate and blood pressure.Carbimazole, iodine, tri-iodothyronine:
Carbimazole and iodine can inhibit the synthesis of thyroid hormone, but tri-iodothyronine is very potent and would do the opposite of the therapeutic aim.Esmolol, thyroxine, dexamethasone:
Esmolol and dexamethasone can tone down the severe adrenergic response and prevent T4 from being turned into T3. However, thyroxine would do the opposite of the therapeutic aim and make the situation worse.Lugol’s iodine, furosemide, thyroxine:
Lugol’s iodine can be used to treat hyperthyroidism, but furosemide is not appropriate for addressing thyroid storm. Thyroxine would make the situation worse.Prednisolone, paracetamol, tri-iodothyronine:
Prednisolone can prevent T4 from being converted to T3, but it is usually available in oral form and may not be efficient in addressing thyroid storm. Tri-iodothyronine would exacerbate the patient’s condition, and paracetamol is not indicated for this condition.In conclusion, the treatment options for thyroid storm in Graves’ disease patients depend on the patient’s condition and medical history. It is important to consult with a healthcare professional to determine the best course of action.
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This question is part of the following fields:
- Endocrinology
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Question 10
Incorrect
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A 20-year-old female comes to the clinic complaining of secondary amenorrhoea for the past six months. She recently experienced moderate vaginal bleeding and abdominal pain. Additionally, she has gained around 14 pounds in weight during this time. What is the probable diagnosis?
Your Answer:
Correct Answer: Pregnancy
Explanation:Secondary Amenorrhea and Miscarriage: A Possible Sign of Pregnancy
Secondary amenorrhea, or the absence of menstrual periods for at least three consecutive months in women who have previously had regular cycles, can be a sign of pregnancy. In cases where a patient with secondary amenorrhea experiences a miscarriage, it is important to consider the possibility of pregnancy. This information is highlighted in the book Williams Gynecology, 4th edition, authored by Barbara L. Hoffman, John O. Schorge, Lisa M. Halvorson, Cherine A. Hamid, Marlene M. Corton, and Joseph I. Schaffer.
The authors emphasize the importance of considering pregnancy as a possible cause of secondary amenorrhea, especially in cases where a miscarriage has occurred. This highlights the need for healthcare providers to be vigilant in their assessment of patients with secondary amenorrhea and to consider pregnancy as a possible diagnosis. Early detection of pregnancy can help ensure appropriate prenatal care and management, which can improve outcomes for both the mother and the baby.
In conclusion, secondary amenorrhea followed by a miscarriage should raise suspicion of pregnancy. Healthcare providers should be aware of this possibility and consider pregnancy as a potential diagnosis in patients with secondary amenorrhea. Early detection and appropriate management of pregnancy can improve outcomes for both the mother and the baby.
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This question is part of the following fields:
- Endocrinology
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