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Table 1 Causes and symptoms of pathological delayed pubarche and suggested laboratory testing and imaging

From: Delayed pubarche

Causes of delayed pubarche Symptoms Laboratory testing and imaging
Primary adrenal insufficiency Fatigue, weakness, weight loss
Nausea, vomiting, abdominal pain
Hypotension (particularly orthostatic), dehydration
Hyperpigmentation
Unresponsiveness to intravenous fluid, coma (if severe)
Poor feeding and impaired growth (in infants)
Hyponatremia, hyperkalaemia, hypoglycaemia, ketonemia
Altered baseline ACTH, cortisol, renin and aldosterone
Pathological values of cortisol at ACTH test
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Secondary adrenal insufficiency Fatigue, weakness, weight loss
Nausea, vomiting, abdominal pain
Impaired growth (GH deficiency)
Altered baseline ACTH and cortisol
Normal values of cortisol at ACTH test
Search for other pituitary hormones (especially GH)
Central nervous system MRI
Genetic testing for panhypopituitarism
Androgen insensitivity syndrome Femininization of external genitalia at birth
Undermasculinization and abnormal sexual development
Infertility
Karyotype (46, XY)
Pelvic ultrasound
Genetic testing (AR gene)
Turner syndrome Physical abnormalities (such as webbed neck, hands and feet lymphedema)
Coarctation of aorta
Short stature
Early loss of ovarian function (primary amenorrhea)
Karyotype (45, X)
Hypothyroidism Impaired growth
Fatigue
Constipation
Weight gain
Sleepiness
Dry scalp and skin
Altered TSH, FT4
Search for anti TG and anti TPO antibodies
Search for other autoimmune diseases