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Turner Syndrome

Management Team

Turner Syndrome

Overview

Turner syndrome refers to a genetic disorder which affects only females and arises due to one missing or incomplete X chromosome.

  • Ovarian insufficiency
  • Short stature
  • Learning difficulties
  • Heart defects

At times, distinguishing the signs and symptoms of Turner syndrome from those of other conditions can be challenging, making timely and accurate diagnosis essential.

Genetic testing and physical examination.

  • Growth hormone therapy to increase height
  • Oestrogen replacement therapy for puberty and menstrual cycles
  • Managing other health issues like heart defects and hearing problems.
  • Early intervention and regular monitoring are crucial for addressing the medical and developmental challenges associated with Turner syndrome, improving quality of life and health outcomes for affected individuals.
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Congenital Adrenal Hyperplasia

Management Team

Congenital Adrenal Hyperplasia

Overview

Congenital adrenal hyperplasia refers to a group of inherited conditions affecting the adrenal glands, leading to abnormal hormone production.

Deficiency of enzymes needed for cortisol and aldosterone production.

Vary but can include ambiguous genitalia, early puberty, and severe electrolyte imbalances.

Newborn screening, genetic testing, and hormone level assessments.

Hormone replacement therapy for correction of deficiencies and management of symptoms. Regular monitoring and adjusting hormone doses are essential for optimal management. Early diagnosis and treatment improve outcomes, and genetic counselling can help families understand the condition and its inheritance patterns.

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Hirsutism

Management Team

Hirsutism

Overview

Hirsutism refers to excessive growth of hair in women presenting in areas where hair is usually sparse or absent, including the face and chest.

Hormonal imbalances, particularly elevated levels of androgens. Conditions like PCOS and certain medications can cause hirsutism. If you notice excessive facial or body hair growth, it may indicate an underlying medical issue. Thus, it is advisable to consult an endocrinologist if you experience significant or sudden hair growth on your face or body persisting for a few months.

Evaluation of medical history, symptoms, and hormone levels through blood tests.

Medications to reduce androgen levels or inhibit hair growth as well as cosmetic treatments like laser hair removal or electrolysis. Managing underlying conditions contributing to hirsutism is important for effective treatment and improving the patient’s quality of life.

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Polycystic Ovary Syndrome (PCOS)

Management Team

Polycystic Ovary Syndrome (PCOS)

Overview

PCOS refers to a prevalent hormonal disorder in women linked to insulin resistance, obesity, and a heightened risk of type 2 diabetes and heart disease. If you are experiencing irregular periods, difficulties with conception, or notice excessive growth of hair on your face and body, along with acne or male-pattern baldness, it is advisable to consult a reproductive endocrinologist.

Excessive hair growth, irregular periods, ovarian cysts, and acne

Assessment of symptoms, blood tests to assess hormone levels, and ultrasound to view the ovaries.

Focuses on managing symptoms and may include lifestyle changes, hormonal birth control to regulate periods, medications like metformin to improve insulin resistance, and treatments for excess hair growth. Maintaining a healthy weight and regular monitoring are essential to manage PCOS and reduce complication risk.

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P

Intercostal Drainage

Management Team

Intercostal Drainage

Overview

Intercostal drainage, also known as chest tube insertion, is a procedure used to remove air, fluid or pus from the pleural space, which is the space between the lungs and chest wall.

  • Pneumothorax: Presence of air in the space between the chest and lungs, which causes lung collapse
  • Pleural Effusion: Presence of fluid in the pleural space
  • Haemothorax: Presence of blood in the pleural space
  • Empyema: Presence of pus in the pleural space due to infection
  • Post-Surgical Drainage: Drainage after thoracic surgeries to prevent fluid/blood accumulation

  • Preparation: The patient is positioned, usually sitting up or lying on the side. Local anaesthesia is administered to numb the area.
  • Insertion: A small incision is made between the ribs, and a chest tube is inserted into the pleural space. The tube is then connected to a drainage system to allow the continuous removal of air, fluid, or pus.
  • Positioning: The tube is often secured to the skin with sutures and covered with a sterile dressing.
  • Monitoring: The patient is monitored to ensure proper drainage. The tube remains in place until the underlying issue is resolved, which is confirmed via imaging (e.g., chest X-ray).

The chest tube is removed once it is no longer needed (typically when drainage decreases and imaging shows resolution of the underlying problem).

  • Infection
  • Bleeding
  • Tube displacement
  • Organ Injury (lung, liver or diaphragm)
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I

Impulse Oscillometry

Management Team

Impulse Oscillometry

Overview

Impulse Oscillometry (IOS) is a non-invasive technique used for assessing lung function. It measures respiratory impedance, which includes both resistance and reactance in the airways, by applying small pressure oscillations to the respiratory system during normal breathing. This technique provides detailed information about the mechanical properties of the lungs and airways, making it particularly useful in diagnosing and monitoring conditions, such as asthma, COPD and other respiratory disorders. It is an excellent method to diagnose small airway obstruction, which can be missed by spirometry. Small airways are less than 2 mm in diameter and are usually affected first in obstructive airway disease; hence, IOS can be used to detect these diseases earlier (than by spirometry). IOS is non-invasive, easy to perform and requires minimal patient cooperation; therefore, it is suitable for a wide range of patients, including young children and older patients.

IOS uses sound waves or pressure impulses to create small oscillations in the airway. The patient's response to these oscillations is measured to determine respiratory impedance.

Resistance (R): Reflects the ease with which air flows through the airways. Increased resistance can indicate obstruction or narrowing of the airways.

Reactance (X): Represents the elastic and inertive properties of the respiratory system. Changes in reactance can provide information about the stiffness or compliance of the lungs and chest wall.

  • Diagnosing and monitoring asthma, COPD and other obstructive lung diseases.
  • Evaluating the effectiveness of bronchodilator therapy.
  • Assessing respiratory function in patients with neuromuscular diseases or other conditions affecting breathing mechanics.
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I

Gynaecomastia

Management Team

Gynaecomastia

Overview

Gynecomastia is characterised by enlarged breast tissues in males, often due to hormonal imbalances between oestrogen and testosterone. It can occur during puberty, due to certain medications, or because of health conditions like liver or kidney disease.

Swollen breast tissue and tenderness. Gynecomastia is usually benign and can resolve on its own; however it can cause emotional distress.

Physical exam, assessment of medical history, and sometimes blood tests or imaging studies.

Treatment depends on the cause and severity. Options include observation, medications to adjust hormone levels, or surgery to remove excess tissue if gynecomastia persists or causes significant discomfort.

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G

Indwelling Pleural Catheter

Management Team

Indwelling Pleural Catheter

Overview

Indwelling pleural catheter (IPCs) are flexible tubes that are inserted into the pleural space (the space between the lungs and chest wall) to drain excess fluid. They are typically used for patients who have recurrent pleural effusions due to conditions such as cancer, heart failure or infections. The catheter allows the patients to manage fluid build-up at home, reducing the need for repeated hospital visits for thoracentesis (a procedure to remove fluid from the pleural space). The use of IPCs can reduce symptoms, such as shortness of breath, and enhance the quality of life for patients with chronic pleural effusion.

  • Preparation: The patient is usually given local anaesthesia to numb the area. Sedation may also be provided to help the patient relax.
  • Insertion: A small incision is made in the chest wall. Using ultrasound guidance, the catheter is inserted into the pleural space. The catheter is then tunnelled under the skin to help reduce the risk of infection and is secured in place.
  • Securing the Catheter: The external end of the catheter is connected to a drainage bag or bottle. The catheter is secured with sutures and covered with a sterile dressing.
  • Post-Insertion Care: The patient is monitored for a short period to ensure there are no immediate complications, such as bleeding or pneumothorax (collapsed lung).

Regular Drainage: Fluid is typically drained every few days, or as needed, to manage symptoms. The patient or a caregiver is trained to perform the drainage at home.

Site Care: The catheter site must be kept clean and dry to prevent infection. Dressings should be changed regularly according to the healthcare provider’s instructions.

Monitoring for Complications: Patients should watch for signs of infection (e.g., redness, swelling, fever) or catheter malfunction and contact their healthcare provider if any issues arise.

  • Infection: The most common complication is an infection at the catheter site or within the pleural space.
  • Catheter blockage: The catheter can become blocked, preventing proper drainage.
  • Pain: Some patients may experience pain or discomfort at the insertion site.
  • Pneumothorax: Although rare, the insertion procedure can sometimes cause a pneumothorax.
  • Bleeding: There is a risk of bleeding during or after the insertion of the catheter.
  • Tumour seeding: In cases of malignant pleural effusion, there is a risk that cancer cells might spread along the catheter track.

Proper care and monitoring are crucial to minimise risks and complications. Always follow the healthcare provider's instructions and report any concerns promptly.

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I

Bronchoscopy

Management Team

Bronchoscopy

Overview

Bronchoscopy is a procedure that lets doctors look at your lungs and air passages. It is usually performed by a doctor who specialises in lung disorders (a pulmonologist). During bronchoscopy, a thin tube (bronchoscope) is passed through the nose or mouth, down the throat, and into the lungs.

Common reasons for needing bronchoscopy are a persistent cough, infection, or some unusual findings on a chest X-ray or other tests.

Bronchoscopy can also be used to obtain samples of mucus or tissue, to remove foreign bodies or other blockages from the airways or lungs, or to provide treatment for lung problems.

  • Diagnosis of a lung problem
  • Identification of a lung infection
  • Biopsy of lung tissue
  • Removal of mucus, a foreign body, or other obstructions in the airways or lungs, such as a tumour
  • Placement of a small tube to hold open an airway (stent)
  • Treatment of a lung problem (interventional bronchoscopy), such as bleeding, an abnormal narrowing of the airway (stricture), or a collapsed lung (pneumothorax)1
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B

Delayed Puberty

Management Team

Delayed Puberty

Overview

Delayed puberty is a condition arising when a child fails to show signs of puberty by the expected age, typically around 13 years in girls and 14 years in boys.

Genetic factors, chronic illnesses, nutritional deficiencies, or hormonal imbalances. Delayed puberty can affect physical development and may lead to emotional and social issues.

Evaluating growth patterns, hormone levels, and family history. In some cases, a bone age assessment and imaging studies are needed.

Depends on causative factors, and can include hormone therapy to stimulate the onset of puberty. Support and counselling can help children cope with the emotional impact of delayed development.

Delayed puberty in most teenagers simply means that they are developing later than usual and will eventually catch up. However, if your child is showing signs of delayed puberty, it is advisable to consult a paediatric endocrinology specialist, a doctor who focuses on treating children and teenagers with growth concerns, to rule out underlying medical conditions and receive appropriate treatment.

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D
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