A 16-year-old girl comes to the clinic complaining of amenorrhea. She reports that she has never experienced a menstrual cycle. During the examination, you observe minimal axillary and pubic hair growth. Additionally, there are bilateral swellings in the groin area.
The blood test results are as follows:
– Testosterone: 11.2 nmol/L (< 1.8)
– FSH: 16 IU/L (1.8 – 22.5)
– LH: 120 IU/L (1.2-103)
Based on these findings, what is the most probable diagnosis?
A 16-year-old girl comes to your clinic with her parents. They recently moved from Pakistan. Her teachers have expressed concerns about possible learning difficulties, prompting her parents to seek medical advice.
During the examination, you observe that she is 1.50m tall and weighs 70kg. Her BMI is 31.1kg/m². The cardio-respiratory examination is normal, but you notice some shortening of the 5th metacarpals on both hands.
Blood tests have been conducted, and the results are as follows:
Parathyroid hormone 80 pg/mL (14-65)
Adjusted calcium 2.1 mmol/L (2.2-2.6)
Phosphate 2.05 mmol/L (0.97-1.45)
Based on the information provided, what is the most likely underlying diagnosis?
A 38-year-old man is referred to the outpatient department by his GP due to a loss of libido and impotence. He works in a high-stress job as a financial analyst and has a three-year pack year history. He drinks three glasses of wine per night.
Blood tests show a prolactin level of 3200 mU/l (<360), normal thyroid function tests, MCV 98 fl, and low testosterone. What would be the most suitable investigation in this case?
A 28-year-old female presents to the clinic with complaints of anxiety, palpitations, and a resting tremor that have been present for the past two weeks. She also reports flu-like symptoms and pain in her anterior neck. Upon examination, tenderness is noted over her thyroid. Her blood pressure is 115/88 mmHg, and she has a fine tremor at rest, sweaty palms, and a heart rate of 88 beats per minute. Her TSH level is <0.05 U/ml. What is the most appropriate course of action for this patient?
A surgical FY1 requests your expertise in reviewing a preoperative ECG for a 20-year-old patient admitted with suspected appendicitis. The ECG shows a prolonged QT interval and the adjusted calcium level is 2.02 mmol/l. The FY1 also notes that the patient’s outer two knuckles appear as dimples and their BMI is 29 kg/m². Blood tests reveal an elevated PTH level of 69 pmol/L (normal range = 0.8 – 8.5), phosphate level of 2.0 mmol/l, and ALP level of 130 u/l. Based on these findings, what is the most likely cause of the patient’s hypocalcaemia?
A 25-year-old woman presents to her GP with tiredness, weight loss, and diarrhoea. She has also been experiencing heavy periods over the past few months. On examination, she appears tanned, but is very thin and emaciated. Her BP is 115/80 mmHg, pulse is 84 bpm and regular, and she has a postural drop of 20 mmHg on standing. Investigations reveal abnormal results for haemoglobin, potassium, ferritin, albumin, ALT, TSH, and glucose. Based on these findings, what is the most likely diagnosis for this patient?
A 30-year-old man presents to the clinic with his partner due to difficulties with fertility, having tried to conceive for over 24 months with no success. He reports decreased libido and trouble maintaining his erection. He has also experienced problems with his sense of smell for as long as he can remember. On physical examination, his blood pressure is 120/70 mmHg, with a pulse of 75/min. He has sparse secondary sexual hair and a small penis.
Investigations reveal a hemoglobin level of 124 g/l, a white blood cell count of 7.1 x 109/l, and a platelet count of 203 x 109/l. His sodium and potassium levels are within normal limits, but his creatinine level is 110 µmol/l. His TSH level is 1.2 U/l (0.5-4.5 U/l), and his free T4 level is 12 pmol/l (10-22). His testosterone level is 7.0 nmol/l (9–35), while his FSH and LH levels are both low.
What is the most likely diagnosis?
A 67-year-old man presents to the medical admissions unit with increasing drowsiness and confusion. He was diagnosed with primary small cell carcinoma of the lung six months ago but declined chemotherapy. His past medical history includes chronic obstructive pulmonary disease, ischaemic heart disease, hypertension, hypercholesterolaemia, and depression.
His wife brought him to the Emergency Department after noticing his increasing drowsiness and confusion over the last few hours. He had been relatively well prior to this. His GP had prescribed Oramorph solution PRN for new onset generalised aches and pains four weeks ago. He had developed abdominal pain, which the GP attributed to opiate-induced constipation and prescribed lactulose 15 ml BD, providing partial relief. He had not experienced weakness, numbness, or speech impairment, and had taken the prescribed dose of oramorph. His current medications include oramorph solution 10mg BD, paracetamol 1g QDS, dihydrocodeine 60mg QDS, lactulose 15 ml BD, aspirin 75mg OD, atorvastatin 20mg ON, bisoprolol 2.5mg OD, Ramipril 2.5mg OD, and furosemide 40 mg OD.
On examination, the patient was drowsy with a GCS of 12 (E 3 M5 V4). His blood pressure was 102/68, heart rate 58 bpm, respiratory rate 10/min, oxygen saturations of 95% on air, and temperature 36.6ºC. Cardiovascular and respiratory systems were unremarkable. Examination of his central nervous system revealed normal sized pupils, and no focal neurological signs were found. There was no evidence of neck stiffness, and Kernig’s sign was negative. The patient was uncooperative with an abbreviated mental state examination.
Which investigation is most likely to provide a diagnosis of the underlying cause?
A 28-year-old female presents with secondary amenorrhoea after discontinuing the oral contraceptive pill 8 months ago. She complains of frequent headaches and experiences difficulty standing up from a seated position or climbing stairs.
During the examination, milk was expressed from her breasts, and her visual fields showed bilateral defects in the upper outer quadrants.
The following laboratory results were obtained:
– Prolactin 1080 mIU/L (NR<360)
– FSH 0.1 IU/L (NR 1-11)
– LH 0.2 IU/L (NR 20-75)
– TSH 0.1 mIU/L (NR 0.3-6.0)
– T4 8 pmol/L (NR 10-25)
– 9am cortisol 20 nmol/L (NR 140-700)
A pituitary MRI revealed a 3 cm pituitary mass with tenting of the optic chiasm.
What is the next step in managing this patient?
A 26-year-old woman presents to the hospital with increasing confusion. Her parents report a gradual history of weight loss, abdominal cramping, and lethargy. She has no medical history and takes no regular medications. She lives with her parents, and her mother has hypothyroidism while her father has hypertension controlled with bendroflumethiazide.
During the examination, she appears thin with cool skin and sunken eyes. Her capillary refill time is 3 seconds, and her mucous membranes are dry. Bilateral symmetrical vesicular breath sounds are heard during chest auscultation. Her abdomen is soft with normal bowel sounds. She has a Glasgow Coma Scale of 14 and no focal neurology.
Her test results show:
Hb 10.4 g/dL
MCV 90 fL
WCC 6.4 *10^9/l
Platelets 170 *10^9/l
Na+ 105 mmol/L
K+ 5.8 mmol/L
Ur 8.8 mmol/L
Cr 90 µmol/L
Glucose 3.9 mmol/L
Urinary Osmolality 108 mmol/L
Urinary Sodium 67 mmol/L
Chest X-ray is clear, and CT Head shows no intracranial abnormalities.
What is the most probable diagnosis?