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 Search for other autoimmune diseases |
| 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 |