Precocious Pseudopuberty Clinical Presentation

Updated: Oct 18, 2017
  • Author: Sunil Kumar Sinha, MD; Chief Editor: Robert P Hoffman, MD  more...
  • Print
Presentation

History

The age of onset and the time velocity of physical changes, development of secondary sexual characteristics, sex steroid exposure, and evidence of possible CNS dysfunction are important information to obtain in the patient history. [11] The following may be reported:

  • CNS risk factors, including infections, perinatal asphyxia, head trauma, neoplasms, or prior radiation therapy.
  • Personality changes, increased appetite, headaches, and/or visual changes.
  • Exposures to skin or hair products, vitamins, or dietary supplements that may contain estrogenic or androgenic substances, including placental extracts.
  • Excess consumption of soy or other phytoestrogens may also contribute to pseudopuberty.
  • Ingestion of medications containing estrogens, such as oral contraceptives.
  • Inadvertent transdermal transmission of topical androgen gels used by adults in the household.

Frequently, a strong family history for this disorder is observed: in males, FMPP is inherited as an autosomal dominant disorder; congenital adrenal hyperplasia (CAH) is usually detected at birth.

 

Next:

Physical

Findings that suggest precocious puberty include advanced development with progression, rapid linear growth,  advanced skeletal maturation; and in girls, the presence of both breasts and pubic hair. [6] The age of onset of pubertal development is determined by the degree of sexual maturation present upon physical examination using the Tanner growth charts (shown below).

  • Height: measure the individual's height with a stadiometer (the individual should not be wearing shoes); calculate growth velocity from previous height measurements.

  • Weight: A recent study concluded that increasing body mass index (BMI) and excessive weight at age 5 years predicts the advanced stages of puberty. [12] Also, an advanced stage of puberty predicts young adults' BMI and overweight status at age 21 years.

  • Abnormal vital signs: bradycardia and low normal temperature may suggest severe hypothyroidism; elevated blood pressures may be observed in response to an adrenal tumor or in congenital adrenal hyperplasia (CAH) due to 11β-hydroxylase deficiency.

  • Secondary sexual characteristics: these are staged using the Tanner growth charts (shown below) for breasts and pubic hair in girls and pubic hair in boys.

Graph represents the prevalence of breast developm Graph represents the prevalence of breast development at Tanner stage 2 or greater by age and race.
Graph represents the prevalence of pubic hair at T Graph represents the prevalence of pubic hair at Tanner stage 2 or greater by age and race.

 

See the list below:

  • Accurate measurements of testicular volume and stretched penile length should also be performed and compared with normal measurements for age.

  • FMPP: The age of onset is usually 2-4 years. The penis increases in size, but testicular volume is increased to a size that is less than expected for the degree of sexual maturation. Nodular Leydig cell hyperplasia can be observed, and seminiferous tubular development is usually sufficient to allow spermatogenesis. [13]

  • Androgenic effects: Perform a careful evaluation, looking for the presence of acne, hirsutism, increased muscle mass, and clitoromegaly in females. Looking for these signs helps focus the differential diagnosis toward androgenic causes of precocious puberty. 

  • Estrogenic effects: Breast development and changes in the vaginal mucosa are signs of estrogen exposure. The vaginal mucosa in prepubertal girls is reddish in hue. Estrogen causes the mucosa to thicken and take on a more pinkish hue. Vaginal maturation index may be helpful. Superficial cells are detected with high estrogen effect, whereas only parabasal cells are observed in the absence of recent estrogen exposure. Increased growth rate and weight gain may also be early signs of sex hormone exposure.

  • Skin: Perform a thorough examination of the skin looking for the presence of large irregular café-au-lait pigmentation or multiple smaller café-au-lait spots. Large café-au-lait spots with irregular borders may be a marker of McCune-Albright syndrome (MAS). Multiple café-au-lait spots with smooth borders are characteristic of neurofibromatosis type 1, a syndrome in which precocious puberty is common but usually is gonadotropin-dependent.

  • Abdominal: A thorough abdominal examination is critical because adrenal or ovarian tumors may be palpable. [14]  In girls, ultrasonography is a more sensitive technique for examination of the ovaries for mass lesions. Consider the use of pelvic MRI if the clinical presentation is suggestive of a functional ovarian tumor. In boys, physical examination of the testes should reveal a testicular mass, but ultrasonography may be a more sensitive technique.

Previous
Next:

Complications

In patients with MAS, long-term complications stem from the multiple endocrinopathies that these patients may develop. Patients may also develop extremely deforming and disabling polyostotic bone changes.

Testotoxicosis: Complications of testotoxicosis are related to early sexual and physical maturation. Other complications are psychological and related to the early sexual and physical maturation.

In CAH, complications from overtreatment with hydrocortisone (eg, poor growth, adrenal suppression, features of Cushing syndrome) may be observed. Undertreatment of females may result in irreversible virilization and polycystic ovarian syndrome. Young men with untreated or poorly treated classic CAH may develop testicular adrenal rests, responsive to glucocorticoid suppression. Subfertility may be associated with CAH in both men and women. Adrenal tumors are more common in patients with CAH than in the general population.

Previous