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Cardiovascular

Abdominal pain in kids

Abnormal/Dysfunctional Uterine Bleeding (AUB/DUB)

Acanthosis Nigricans

Actinic Cheilitis

Acute Kidney Injury (AKI)

Acute Swollen Joint with Fever

Acute Vision Loss

Acute and Progressive Vision Loss

Adjustment Disorder and Anxiety

Adjustment Disorder with Depressed Mood

Age related macular degeneration

Alcohol Cessation

Allergic rhinitis

Angular Cheilitis

Ankylosing Spondylitis (AS)

Anorexia Nervosa

Anticholinergics and TCAs

Antidepressants

Antimetabolite drugs

Antiphospholipid syndrome

Anxiety Disorders

Aortic Dissection

Atrial Fibrillation

Behavioural / learning disorders

Behavioural disturbances

Bell’s palsy and Ramsey Hunt syndrome

Beta-Human Chorionic Gonadotropin (β-hCG)

Biologic agents

Bipolar Disorder

Bleeding disorders

Bronchiectasis (Updated)

CA-125 (Cancer Antigen 125)

CVD Risk Assessment

Calluses and Corns

Candida (Candidiasis as an STI)

Carpal tunnel syndrome and de quervains tenosynovitis

Cervical spondylosis

Chickenpox (Varicella)

Chronic Cough in Children

Chronic Fatigue Syndrome (CFS)

Chronic Kidney Disease (CKD)

Chronic Rhinosinusitis

Chronic Stridor

Clavicular fracture

Colorectal Cancer Screening Recommendations

Congestive Cardiac Failure

Connective Tissue Diseases

Contact Dermatitis

Cutaneous Drug Eruptions

Dacrocystitis, dacyrostenosis, dacyrocystocoele

Deep Vein Thrombosis (DVT)

Depression and Delirium

Dermal melanocystosis (mongolian spot)

Developmental Dysplasia of the Hip (DDH)

Diabetes Insipidus (DI) vs Primary Polydipsia

Diabetic Neuropathy

Dizziness / syncope

Duchenne muscular dystrophy

Dupuytrens / trigger finger

Dyspnoea (Shortness of Breath)

Klinefelter Syndrome

Pathology

Extra X (47, XXY) → more feminine → less testosterone.
Most common cause of male hypogonadism.

Presentation

Often asymptomatic; features appear in puberty or infertility workup.

Small testes (<4mL), azoospermia, infertility.
Low libido, delayed/incomplete puberty.
Gynaecomastia, sparse body/facial hair, feminine fat distribution.
Tall stature, long limbs, osteoporosis risk.
Learning and social difficulties.
Diabetes, hypothyroidism, metabolic syndrome.

Investigations

Hormonal: Low testosterone, high FSH/LH.
Genetic: Karyotype (47, XXY).
Bone Health: DEXA for osteoporosis.
Metabolic: HbA1c, glucose, lipid profile.

Management

Testosterone Replacement Therapy (TRT)

Benefits: Improves mood, libido, muscle strength, bone density.
Limits: Does not restore fertility.

Fertility

Refer for testicular sperm extraction + assisted reproductive technology.

Long-Term Care

Bone: Regular DEXA scans.
Metabolic: Monitor for diabetes, dyslipidaemia.
Psychological: Support for learning, anxiety, or depression.
Cancer: Screen for prostate cancer if on TRT.

Specialist Follow-Up

Endocrinology and allied health input.

Klinefelter Syndrome

Pathology

Klinefelter syndrome is caused by an extra X chromosome (karyotype 47, XXY), leading to testicular dysgenesisand reduced testosterone.
It is the most common cause of male hypogonadism (prevalence ~1 in 500–600 male births).

Presentation

Often asymptomatic in childhood; signs typically become more apparent during puberty or are identified during infertility evaluations.
Clinical Features:
- Small testes (<4 mL) and azoospermia → infertility.
- Low libido, delayed or incomplete puberty.
- Gynaecomastia, sparse body/facial hair, and a more feminine fat distribution.
- Tall stature, long limbs, potential osteoporosis risk.
- Learning or social difficulties (mild language or executive function deficits).
- Higher risk of type 2 diabetes, hypothyroidism, metabolic syndrome.

Investigations

Hormonal Profile:
- Low testosterone, high FSH/LH (primary hypogonadism).
Genetic:
- Karyotype showing 47, XXY confirms diagnosis.
Bone Health:
- DEXA scan for osteoporosis risk.
Metabolic Assessment:
- HbA1c, fasting glucose, and lipid profile (increased risk of dyslipidaemia, diabetes).

Management

Testosterone Replacement Therapy (TRT)

Benefits:
- Improves mood, libido, muscle mass/strength, bone density.
- Addresses some features of hypogonadism (fat distribution, energy levels).
Limitations:
- Does not restore fertility (endogenous spermatogenesis remains low).

Fertility

Refer to reproductive specialists: Possible testicular sperm extraction (TESE) and assisted reproductive technology (ICSI) if viable sperm can be retrieved.
Counselling on options and success rates.

Long-Term Care

Bone Health: Regular DEXA scans, adequate calcium/vitamin D intake, weight-bearing exercise.
Metabolic: Monitor for type 2 diabetes and dyslipidaemia (annual screening).
Psychological: Learning support, mental health counselling for anxiety/depression.
Cancer Screening: For individuals on long-term TRT, follow standard prostate cancer screening guidelines (PSA/DRE as per age recommendations).

Specialist Follow-Up

Endocrinology: Ongoing management of testosterone therapy, metabolic risks.
Allied Health: Psychology/psychiatry for learning or social difficulties; dietetics for metabolic syndrome prevention.

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