Version May 2024
| Etiology | Clinical features | Bone age | Additional evaluation |
| Females only | |||
| Ovarian cysts | Breast development and/or vaginal bleeding. Occasionally presents with ovarian torsion and abdominal pain. | ↑ to ↑↑ | Pelvic ultrasound may visualize the cyst, although, in some cases, the cyst may have involuted by the time of the study. Vaginal bleeding is indicative of estrogen withdrawal. Recurrent ovarian cysts suggest McCune-Albright syndrome. |
| Ovarian tumor | Development of either isosexual or contrasexual sexual precocity, depending of tumor type. | ↑↑ | Pelvic ultrasound. |
| Males only | |||
| Leydig cell tumor | Asymmetrical enlargement of the testes. | ↑↑ | Pubertal testosterone concentrations. Testicular ultrasound aids in diagnosis. |
| hCG-secreting germ-cell tumors | Symmetric testicular enlargement to an early pubertal size, but testes remain smaller than expected for degree of pubertal development. Peripheral precocity is seen only in males because hCG only activates LH receptors (estrogen biosynthesis in the ovaries requires both FSH and LH receptor activation). | ↑↑ | These tumors may occur in gonads, brain, liver, retroperitoneum, or mediastinum. When a tumor is identified in the anterior mediastinum, a karyotype must be performed because of an association of this finding with Klinefelter syndrome. |
| Familial male-limited precocious puberty | Symmetric testicular enlargement to an early pubertal size, but testes remain smaller than expected for degree of pubertal development; spermatogenesis may occur. A male-limited autosomal dominant trait. Peripheral precocity is seen only in males because there is only activation of the LH receptors (ovarian estrogen biosynthesis requires both FSH and LH receptor activation). | ↑↑ | Genetic testing for mutations of the LH receptor gene. |
| Females and males | |||
| Exogenous sex steroids (estradiol and testosterone creams) and endocrine-disrupting chemicals | Estrogen preparations cause feminization, while topical androgens cause virilization in both sexes. | ↑ to ↑↑ | Clinical history explores use of exogenous sex steroids and folk remedies by caregivers and exposure to endocrine-disrupting chemicals. |
| McCune-Albright syndrome (females>males) | In females, may present with recurrent episodes of breast development, regression, and vaginal bleeding. In males, sexual precocity is less common. Skin – Multiple irregular-edged café-au-lait spots. Bone – Polyostotic fibrous dysplasia. | ↑ to ↑↑ | Ultrasound – Ovaries enlarged, with follicular cysts. In males, testicular ultrasound can demonstrate hyper- and hypoechoic lesions (most likely representing areas of Leydig cell hyperplasia), microlithiasis, and focal calcifications. May have other hyperactive endocrine disorders, ie, thyrotoxicosis, glucocorticoid excess, and/or gigantism. |
| Primary hypothyroidism | Females – Vaginal bleeding, breast development, and galactorrhea. Males – Testicular enlargement. Other clinical features of hypothyroidism such as short stature. | ↓ | Elevated TSH. |
| Congenital adrenal hyperplasia (untreated) | Males have prepubertal testes with enlarged phallus and pubic hair development. Females with nonclassic congenital adrenal hyperplasia may present with early pubic and/or axillary hair and other signs of androgen excess. | ↑↑ | Sex hormone levels vary depending on the adrenal enzyme block. An early morning 17-OHP >200 ng/dL (>6 nmol/L) has a high sensitivity and specificity for congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency, but an ACTH stimulation test is still recommended to confirm the diagnosis for 17-OHP concentrations between 200 and 1500 ng/dL (6 to 45 nmol/L). After therapy with glucocorticoids, CPP may develop. |
| Virilizing adrenal tumor | Males – Pubic and/or axillary hair and penile growth with prepubertal testes. Females – Pubic and/or axillary hair, other significant signs of androgen excess (acne and clitoromegaly). May present with signs of glucocorticoid excess. May be associated with hereditary cancer syndromes. | ↑↑ | High DHEA or DHEAS, androstenedione, and testosterone. CT and/or ultrasound of adrenal glands to locate tumor. |
آیا می خواهید مدیلیب را به صفحه اصلی خود اضافه کنید؟
