Premature Pubertal
Development in a Five Year
Old Female
Sexual development occurring before 8
years of age in females is considered
precocious puberty, the most recognized
endocrinopathy in a female pediatric
patient. In more than 90% of girls, sexual
precocity is idiopathic and requires a
diagnosis of exclusion (Midyett, 2003).
Precocious pubertal development
may be classified as:
• (1) GnRH-dependent, called true or central
precocious puberty; or
• (2) GnRH-independent, called peripheral
precocious puberty or precocious
pseudopuberty
Presenting condition
A five year old Old Order Mennonite female
presented to the pediatrician with her 27 year old
mother who was concerned she was ‘maturing too
early’. The patient’s mother described the child’s
development of sparse pubic hair resembling that
of an adolescent in color and texture. She noticed
the hair approximately three months previously
and has since noticed a slight proliferation. The
child’s mother had not noticed any other physical,
mental, or neurological symptoms she believed to
be out of the ordinary. The patient is the first child
of the family and has two younger male siblings.
According to the mother, the child had a NEGATIVE history
of the following contributory or predisposing factors of
precocious puberty:
• History of trauma, infection, or insults to central nervous
system
• Previous history of head injury, or cranial irradiation (e.g.
treatment for leukemia)
• Exposure to environmental sex hormones, products
containing sex steroids, (birth control pills, anabolic
steroids), estrogen-containing products, or herbal
preparations
• family history of premature pubertal development
• rapid or delayed growth in first- and second-degree
relatives
Pertinent exam findings:
• General: The patient appears, by stature, to be
around age 8. At a true age of 5 years and 3 months
and 62 lbs and 49 inches tall, the child charts at
significantly greater than the 97th percentile for both
height and weight in her age range. The child’s
growth charts from age 3 to the present are not
available for calculation of growth velocity. Growth
from birth to age 2 is within normal range for age.
There are no other characteristics anomalous of the
child’s stated history.
• Skin: No myxedema, café-au-lait spots,
hyperpigmentation suggesting McCune Albright
Syndrome. Age and sex appropriate texture and
distribution of hair, pubic hair being the only
exception.
• Neck: No palpable thyroid or lumps
• Skeleton: no deformities, symmetric throughout
• Abdomen: Soft, NT, ND, no abdominal masses,
no tenderness, rebound, or guarding. Liver, spleen,
and kidneys not palpable.
• Genitals: No evidence of virilization or ambiguity of
genitals, no changes in skin vascularity related to increased
hormonal activity. Pubic Hair: Tanner II, minimal coarse
pigmented hair mainly on the labia majora (normal mean
onset of pubic hair growth is 12 years of age).
• Breasts: Tanner I – prepubertal, no glandular tissue; areola
follows the skin contours of the chest (normal for the
child’s age)
• Neurologic system, funduscopic examination, cranial nerve
tests, cerebellar tests, peripheral motor examination,
sensory examination, and all parts of the physical exam
unmentioned were unremarkable and age appropriate.
Summary of tests: Initial investigations performed
by the pediatrician included:
• Bone Age: A complete radiologic view of both
hands was performed to evaluate bone age. The
bone age best corresponds to the female standard
of 7 years and 10 months. This is roughly 3
standards beyond the chronologic age of 5 years
and 3 months. (In most patients with precocious
puberty, bone age is more than 2 years ahead of
chronologic age)
•LH: within normal range for chronological age
•FSH: within normal range for chronological age
•Pitocin: within normal range for chronological age
•Testosterone and estradiol: pending
• TSH : within normal range for chronological age
• GnRH stimulating test: pending
•Cranial MRI: pending
•Abdominal US: No significant abnormality detected.
•Pelvic US: Age-appropriate measurement of the
uterus. Mild amount of free cul-de-sac fluid,
nonvisualization of the ovaries.
Differential Diagnosis
• Idiopathic true or peripheral precocious puberty
• Premature Adrenarche
• Organic brain disease (tumors, cysts, injury)
• Hypothyroidism
• Congenital adrenal hyperplasia
• McCune-Albright syndrome
• Gonadal tumors
• Adrenal tumors
• Medication-related precocity
• In this child, pending additional labs, there
aren’t clear signs that activation of the
normal hypothalamic-pituitary-gonadal axis
has been ‘kicked on’, suggesting precocious
pseudopuberty. The other possible option,
most probable if all tests return negative, is
premature adrenarche, (the appearance of
pubic or axillary hair, usually occurring in
girls between ages 4 and 8, without other
evidence of maturation).
Children affected by premature adrenarche are of
slightly advanced height and osseous maturation.
This condition is benign and self-limiting,
“requiring no therapy, but long-term follow-up
suggests that girls with premature adrenarche are
at high risk (20%) of hyperandrogenism and
polycystic ovarian syndrome as adults” (Midyett,
2003).
• In this particular case, the plan is to try to confirm
the diagnosis of premature adrenarche by testing
gonadotrophin and gonadal steroid secretions
(should be at pre-pubertal levels) and circulating
dehydroepiandrosterone concentrations (should be
matched with appropriate bone age and pubic hair
development). These tests will also help to rule out
CAH and possible adrenal tumors. If premature
adrenarche is diagnosed, follow-up would require
continuation of routine growth charting,
monitoring for additional pubertal and hormonal
changes, and reassurance that premature
andrenarche is a benign pubertal variant.
Goals
• Identify the cause of sexual precocity
• Delay sexual maturation to prevent short stature in
adulthood caused by premature epiphyseal fusion
brought on by precocious puberty (GnRH analog)
• Provide full psychological support for child and
parents.
REFERENCES
• Larsen, R.(2003.Precocious Puberty.[Electronic version]. Williams
Textbook of Endocrinology. (10th ed.).
• Midyett LK, Moore WV, Jacobson JD. (2003). Are pubertal changes in
girls before age 8
benign? Pediatrics;111:47-51. Retrieved from
http://www.firstconsult.com/fc_home/members/?urn=com.firstconsult/
• Pinto SM, Garden AS. (2006). Prepubertal adrenarche: a defined
clinical entity. Am J
Obstet Gynecol;195:327-9. Retrieved from
http://www.firstconsult.com/fc_home/members/?urn=com.firstco
nsult/