Differentials

Klinefelter syndrome

SIGNS / SYMPTOMS
INVESTIGATIONS
SIGNS / SYMPTOMS

Puberty is usually completed. Biochemical and clinical hypogonadism develops from late puberty.[45][46] 

Tall stature, with disproportionately long legs in 30%.[46] 

Childhood behavioral differences and developmental delay, especially affecting speech.[45] Anger-management and relationship issues affecting employment in adult life.[47] 

High risk of venous thrombosis, unrelated to testosterone treatment.[48]

Central adiposity and threefold increased risk of type 2 diabetes.[49]

INVESTIGATIONS

Karyotype or copy number variation analysis confirms presence of an extra X chromosome (47,XXY).[45][46] Most patients have 47,XXY genotype anomaly; mosaicism is also seen.[16]

Pituitary macroadenoma

SIGNS / SYMPTOMS
INVESTIGATIONS
SIGNS / SYMPTOMS

Headache and bitemporal hemianopia symptoms related to other pituitary hormonal deficiencies; for example, weight loss and nausea due to adrenal insufficiency, or cold intolerance and constipation due to hypothyroidism.

INVESTIGATIONS

Low luteinizing hormone and follicle-stimulating hormone levels with pituitary macroadenoma.

Possible low thyroxine, triiodothyronine, and cortisol levels.

MRI of the pituitary reveals pituitary lesion.

Prolactin may be modestly raised, but tumor fails to shrink with dopamine-agonist treatment.

Prolactinoma

SIGNS / SYMPTOMS
INVESTIGATIONS
SIGNS / SYMPTOMS

Headache, bitemporal hemianopia, and occasional galactorrhea.

INVESTIGATIONS

MRI of the pituitary reveals pituitary lesion.

Serum prolactin markedly elevated.

Tumor shrinks with dopamine-agonist treatment.

Hyperprolactinemia

SIGNS / SYMPTOMS
INVESTIGATIONS
SIGNS / SYMPTOMS

Galactorrhea (exceptionally rare in males).

Headache may be present if hyperprolactinemia is secondary to prolactinoma.

INVESTIGATIONS

Elevated prolactin levels. Hypothyroidism and dopamine antagonists should be excluded.

Depression

SIGNS / SYMPTOMS
INVESTIGATIONS
SIGNS / SYMPTOMS

Depression resulting in reduced libido.

Psychogenic erectile dysfunction.

INVESTIGATIONS

With a primary depressive disorder, hormonal tests will usually be normal.

Normal early morning erections will still occur if erectile dysfunction is psychogenic.

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