DELAYED PUBERTY
DELAYED PUBERTY: Excerpt from Differential Diagnosis in Primary Care
Because most of the causes of delayed puberty are hormonal in origin,
the key to recalling them will be visualizing the anatomy, particularly the
endocrine glands.
Hypothalamus and pituitary. Lack of gonadotropin-releasing
hormone from hypothalamic disorders such as Lawrence–Moon–Biedl syndrome,
space-occupying lesions, trauma, or infection may cause delayed puberty in
girls and boys. Chromophobe adenomas, prolactinomas, craniopharyngiomas,
trauma, granulomas, and vascular lesions may decrease the production of
growth hormone and other pituitary hormones causing delayed puberty.
Thyroid. Both hypothyroidism and hyperthyroidism in
children may cause delayed puberty.
Adrenal gland. Visualizing this organ will prompt the
recall of congenital adrenocortical hyperplasia and Cushing syndrome.
Ovaries. Ovarian dysgenesis (Turner syndrome, etc.),
autoimmune oophoritis, and Noonan syndrome are associated with delayed
puberty in girls. A masculinizing tumor of the ovary will present with
delayed puberty on occasion.
Testicles. Irradiation, Klinefelter syndrome, Noonan
syndrome, castration, and anorchism may cause delayed puberty in boys. Mumps
rarely is the cause.
The above method of recall will omit the chronic illnesses such as
anorexia nervosa, malnutrition, renal failure, tuberculosis, celiac disease,
collagen disease, and cyanotic heart disease that may cause delayed puberty.
It also will not prompt the recall of drugs that cause delayed puberty such
as thyroid hormone, anabolic steroids, and androgens in girls and thyroid
hormones in boys. It is important to remember that over half the cases of
delayed puberty in boys and 16% of cases in girls are due to
constitutional delayed puberty.
Approach to the Diagnosis
The physician is frequently consulted early about this problem by an
overprotective parent, so it important to remember that there is little
cause for alarm until age 15 in boys and age 14 in girls. Nevertheless, a
workup may be started early if other telltale signs of pathology such as
short stature, web neck, or small or absent testicles are found. The workup
will probably include a thyroid profile, serum testosterone (boys),
estradiol (girls), and follicle-stimulating hormone (FSH) and luteinizing
hormone (LH) assay. Urine gonadotropins are less expensive screening tests.
Pelvic ultrasound and CT scans of the abdomen and pelvis will help to
identify ovarian and adrenal causes. A CT scan or magnetic resonance imaging
(MRI) of the brain will identify most pituitary causes.
Other Useful Tests
-
Testicular biopsy (Klinefelter syndrome)
- Buccal smear for Barr bodies (Klinefelter syndrome)
- Complete blood count (CBC) and chemistry panel (renal failure)
- Gynecology consult
- Psychiatric consult
- Visual field examination (pituitary tumor)
- Serum growth hormone assay (pituitary tumor)
- Urine drug screen (drug abuse)
- Serum free cortisol (Cushing syndrome)
- Full karyotyping (Klinefelter syndrome, Turner syndrome)
- Laparoscopy (ovarian dysgenesis)
- Serum prolactin (pituitary tumor)
- Endocrine consult
Pictures
Book Source Details
- Book Title: Differential Diagnosis in Primary Care
- Author(s): R. Douglas Collins MD, FACP
- Year of Publication: 2007
- Copyright Details: Differential Diagnosis in Primary Care, Copyright © 2007 Lippincott Williams & Wilkins.
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Copyright notice for book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.
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