pastest

Question 1

A 14-year-old female presents to her General Practitioner with primary amenorrhoea and cyclical abdominal pain. On examination, the patient has normal secondary sexual development.

What is the most likely reason for her lack of periods?

Congenital deformity of the uterus
Imperforate hymen
Normal physiological delay
Hyperprolactinaemia
Hypothyroidism

Answer 1

Explanation
B
Imperforate hymen
The patient experiences cyclical abdominal pain and amenorrhea. Normal development of secondary sexual characteristics suggests a pathological delay in menarche, requiring specialist evaluation. Careful examination may reveal an imperforate hymen, a congenital malformation obstructing menstrual blood outflow. Ultrasound can confirm haematocolpos, the collection of menstrual blood in the vagina due to obstruction. Severe cases may present with haematometra and palpable uterus. Initial treatment involves oral contraceptive pills to suppress menses and analgesia for pain management. Definitive treatment includes surgical correction and drainage of collected blood.

A
Congenital deformity of the uterus
Congenital uterine deformities are associated with pelvic pain, menorrhagia or abnormal bleeding, recurrent miscarriages and premature delivery.

C
Normal physiological delay
In cases with normal physiological delay, there is a lack of development of secondary sexual characteristics. This patient has normal secondary sexual development and cyclical pain, both not fitting with a physiological delay in menarche.

D
Hyperprolactinaemia
Hyperprolactinaemia presents with headaches, galactorrhoea, breast pain and amenorrhoea or oligomenorrhoea. The former symptoms are not mentioned here, making this a less likely cause of the patient’s amenorrhoea.

E
Hypothyroidism
Symptoms of hypothyroidism, some of which include fatigue, constipation, weight gain, cold intolerance, muscle weakness, depression and altered mental function, are not mentioned by this patient.

Question 2

A three-year-old boy attends the General Practitioner with his mother for an asthma review. He was diagnosed with asthma six months ago. Since then, he has been on a low-dose clenil (beclometasone 100 μg BD) inhaler and salbutamol inhaler as required; both inhaled via a spacer. He has a nocturnal cough and is using his salbutamol inhaler 3–4 times daily since the weather has been very cold, with good effect. On examination, there are no signs of respiratory distress, his oxygen saturation is 98%, and his chest is clear.

What would be the next step in this patient’s management plan?

Your answer was correct
Add montelukast

Change salbutamol to ipratropium

Increase the dose of clenil

Refer to paediatrician

Stop clenil

Answer 2

Explanation
A
Add montelukast

Montelukast is a leukotriene receptor antagonist (LTRA). An LTRA is recommended for children under five in NICE guidance if their suspected asthma is not controlled on a low-dose inhaled corticosteroid as maintenance therapy. Following the addition of an LTRA, if their symptoms persist, the next step would be a specialist referral.

The definitive next step in this scenario is adding montelukast (an LTRA) to the existing asthma management plan based on the presented symptoms and clinical context. The goal of adding montelukast is to provide additional control of asthma symptoms, particularly during cold weather or other triggers. The decision to initiate an ICS trial, as mentioned in the question, is generally considered for children under five with suspected asthma who require regular use of a SABA inhaler but have not been on an ICS before.

B
Change salbutamol to ipratropium

An LTRA is recommended for children under five years if their suspected asthma is not controlled on a low-dose inhaled corticosteroid as maintenance therapy. Changing the short-acting beta agonist (SABA) would not be appropriate.

C
Increase the dose of clenil

A leukotriene receptor antagonist (LTRA) is recommended for children under five if their suspected asthma is not adequately controlled with a low-dose inhaled corticosteroid as maintenance therapy. However, if asthma remains poorly controlled despite the addition of an LTRA, it is advisable to refer the child to a paediatrician. The paediatrician may consider increasing the dose of the inhaled corticosteroid, but such decisions should be made in consultation with a specialist for this age group. Diagnosing asthma in young children is challenging due to their inability to undergo objective lung function tests, so any treatment failure requires further investigation to ensure an accurate diagnosis.

D
Refer to paediatrician

An LTRA is recommended for children under five years old if their suspected asthma is not controlled on a low-dose inhaled corticosteroid as maintenance therapy. In this case, the child should have an LTRA trial for at least four weeks and then be referred if there is no improvement in asthma control.

E
Stop clenil

For children under the age of five with suspected asthma who require regular use of a short-acting beta agonist (SABA) inhaler, it is recommended to conduct an 8-week trial of moderate-dose inhaled corticosteroid (ICS). Following this, the ICS should be discontinued for four weeks, and if symptoms reappear, the inhaler should be restarted at a low dose. If symptoms persist despite low-dose ICS, an additional trial of a leukotriene receptor antagonist (LTRA) should be considered. If the LTRA is not effective, a referral to a paediatrician is warranted. However, the child must continue the ICS and SABA treatment until a specialist sees them.

Question 3

A 22-year-old female with a history of bipolar disorder gives birth to a baby boy at home. She received no prenatal care, but when she found out she was pregnant, she started taking prenatal vitamins that she got from the pharmacist. Her only medication is valproic acid. It is ten days since the birth, and the mother has brought her baby to the Emergency Department because he has become impossible to arouse. The baby has stable vital signs. A head ultrasound through the fontanelle shows an intracerebral haemorrhage in the germinal matrix. There are no calcifications. Retinal examination does not show petechial haemorrhages. A full skeletal survey is negative.

What is the most likely pathophysiologic mechanism underlying this baby’s haemorrhage?

Folate deficiency from valproic acid treatment

Congenital cytomegalovirus

Congenital toxoplasmosis
Vitamin K deficiency
Congenital herpes simplex virus

Answer 3

Explanation
D
Vitamin K deficiency
Neonates are naturally deficient in vitamin K, as it is produced by gut bacteria, which are not established in the neonate. Vitamin K is important in the production of clotting factors II, VII, IX and X, as well as anticoagulant proteins C and S. When born in a hospital, babies are almost always injected with vitamin K. (Recall that inhibition of vitamin K activity is the mechanism of action of warfarin.)

A
Folate deficiency from valproic acid treatment

Although folate deficiency is common with valproic acid, it does not lead to haemorrhage. Folate deficiency causes neural tube defects. Also note that the question states that this mother was taking prenatal vitamins containing folate.

B
Congenital cytomegalovirus

Congenital cytomegalovirus can cause periventricular haemorrhage but is accompanied by several other congenital abnormalities (including intracerebral calcifications).

C
Congenital toxoplasmosis
Congenital toxoplasmosis can result in periventricular haemorrhage, often accompanied by additional congenital abnormalities such as intracerebral calcifications.

E
Congenital herpes simplex virus
Congenital herpes simplex virus can cause neurologic damage and periventricular haemorrhage, but it also causes a diffuse vesicular rash and many other symptoms.