Symptom Finder - Delayed Puberty
DELAYED PUBERTY
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 Laurence–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 is 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
1. Testicular biopsy (Klinefelter syndrome)
2. Buccal smear for Barr bodies (Klinefelter syndrome)
3. Complete blood count (CBC) and chemistry panel (renal failure)
4. Gynecology consult
5. Psychiatric consult
6. Visual field examination (pituitary tumor)
257
7. Serum growth hormone assay (pituitary tumor)
8. Urine drug screen (drug abuse)
9. Serum free cortisol (Cushing syndrome)
10. Full karyotyping (Klinefelter syndrome, Turner syndrome)
11. Laparoscopy (ovarian dysgenesis)
12. Serum prolactin (pituitary tumour)
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 Laurence–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 is 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
1. Testicular biopsy (Klinefelter syndrome)
2. Buccal smear for Barr bodies (Klinefelter syndrome)
3. Complete blood count (CBC) and chemistry panel (renal failure)
4. Gynecology consult
5. Psychiatric consult
6. Visual field examination (pituitary tumor)
257
7. Serum growth hormone assay (pituitary tumor)
8. Urine drug screen (drug abuse)
9. Serum free cortisol (Cushing syndrome)
10. Full karyotyping (Klinefelter syndrome, Turner syndrome)
11. Laparoscopy (ovarian dysgenesis)
12. Serum prolactin (pituitary tumour)
