Sexual precocity in a male due to thoracic polyembryoma.

A 7-year-old boy with sexual precocity of recent onset was found to have elevated levels of chorionic gonadotropin, alpha fetoprotein, and testosterone. Removal of a retropleural, posterior mediastinal mass with an intraspinous epidural extension was followed by prompt declines in the plasma concentrations of the tumor markers and cessation of adolescent development. The neoplasm proved to be a polyembryoma, unusual in the multiplicity of its embryoid bodies and extra gonadal location. Following local irradiation and two years of systemic chemotherapy, the patient, now 13 years of age, has done well except for evidence of testicular tubular insufficiency.     

Sexual precocity and its treatment

Background

Puberty is a complex and dynamic period in development during which individuals transition from the juvenile to adult state. Regulated by multiple genetic and endocrine controls, it is characterized by somatic growth and sexual maturation. Sexual precocity is defined as the appearance of secondary sexual characteristics before the lower limit of the normal age for pubertal onset.

Data sources

Based on recent publications and the experience with the disease of our group, we reviewed the normal timing and order of puberty, the definition of sexual precocity, the classification of sexual precocity, the differential diagnosis of sexual precocity, variations in pubertal development, the diagnosis of sexual precocity, and the treatment of sexual precocity.

Results

Sexual precocity can be classified as either gonadotropin-releasing hormone (GnRH)-dependent or GnRH-independent. Regardless of the etiology, sexual precocity causes increased height velocity, somatic development, and skeletal maturation, which may have profound physical and psychological implications.

Conclusions

The treatment of sexual precocity is focused on its cause and must address both its psychosocial and clinical implications. For GnRH-dependent precocious puberty, GnRH agonists are the main pharmacological agents used. Alternatively, the treatment of disorders causing GnRH-independent sexual precocity is directed toward the underlying abnormality.     

Sexual precocity with hypothalamic hypopituitarism.

Two girls, one with septo-optic dysplasia and the other with posttraumatic brain damage, had the unusual combination of human growth hormone, thyrotropin, adrenocorticotrophic hormone, and vasopressin deficiencies that were associated with sexual precocity in one patient and early sexual maturation in the second patient, and of adult follicle-stimulating hormone and luteinizing hormone concentrations. At autopsy, the first patient had optic nerve aplasia, a normal pituitary gland, and some disorganization of myelinated fibers in the hypothalamus. The second patient had a normal thyrotropin and prolactin response to thyrotropin-releasing hormone, plus hyperphagia, deranged thirst mechanism, and temperature instability. These findings suggest that the lesion may be a defective hypothalamic regulation of pituitary hormone secretion. Congenital or traumatic hypothalamic-pituitary lesions may not affect all releasing factors or trophic hormones in a similar fashion.     

Sexual precocity: sex incidence and aetiology

The aetiology of 197 girls and 16 boys presenting with sexual precocity was reviewed. Ninety one girls and four boys had central precocious puberty (M:F 23:1); a cause was identified in all the boys but in only six girls. All boys with precocious puberty need detailed investigation; in girls investigation should be based on clinical findings, particularly the consonance of puberty.     

Sexual precocity: sex incidence and aetiology.

The aetiology of 197 girls and 16 boys presenting with sexual precocity was reviewed. Ninety one girls and four boys had central precocious puberty (M:F 23:1); a cause was identified in all the boys but in only six girls. All boys with precocious puberty need detailed investigation; in girls investigation should be based on clinical findings, particularly the consonance of puberty.     

Sexual precocity: a historical perspective and update

Puberty is the interval in the life cycle during which the child becomes an adult. It is heralded by physical changes such as acceleration of linear growth and appearance of secondary sexual characteristics, capped by attainment of reproductive capability, and orchestrated by increases in the secretion of hypothalamic, pituitary, and gonadal hormones. This article discusses selected historical and contemporary aspects of isosexual precocious puberty, i.e., the development of sexual characteristics prior to the usual age of pubertal onset.     

Precocious pseudopuberty due to a granulosa cell tumour in a seven-month-old female

We describe a juvenile granulosa cell tumour resulting in pseudopuberty in an infant female. The progression of the clinical signs of puberty were non-consonant and the diagnosis was complicated by marginally elevated serum α-fetoprotein levels. The histological appearance of the resected tumour and binding of MIC2 antibody to tumour cells confirmed the diagnosis.     

Sexual precocity: clinical profile and laboratory evaluation

Fifteen children (8 boys and 7 girls) with sexual precocity were evaluated. Idiopathic precocious puberty was the most frequent diagnosis in girls (71·4%), whereas it was uncommon in boys (25%). Hydrocephalus and hypothalamic hamartoma were other causes of central precocity. Congenital adrenal hyperplasia (CAH) was a frequent (50%) cause of precocity in boys.     

Sexual precocity in association with septo-optic dysplasia and hypothalamic hypopituitarism.

Sexual precocity in association with abnormalities of the central nervous system is well known, but its occurrence with hypothalamic hypopituitarism is most unusual. We report five females with septo-optic dysplasia, blindness, and multiple pituitary tropic hormone deficiencies: all were growth hormone and adrenocorticotropic hormone deficient; two had diabetes insipidus; one had sexual precocity, and one had early pubertal maturation, whereas three were prepubertal and responded to administration of synthetic gonadotropin-releasing hormone. These children retained ability to secrete gonadotropins despite the presence of anterior hypothalamic disease. Experimental data from primates plus our observations on these patients raise questions about the role of the anterior hypothalamus in gonadotropin secretion in man.     

Sexual precocity associated with an abdominal tumor in an African boy

We report a 3 year-old boy in Tanzania with an abdominal mass and isosexual precocity due to an hCG-secreting hepatoblastoma. Due to the limited availability of local diagnostic testing, surgery and chemotherapy were completed before immunohistochemical and endocrine results were available.