This patient presents with delayed puberty and a family history that is positive for delayed puberty. He has no history of chronic disease or chronic stress, and he has no neurologic signs or symptoms. He is found to have delayed bone age on radiographs. Constitutional delay of growth and puberty (CDGP) is the most probable cause of these findings.

Constitutional delay of growth and puberty (CDGP) is the most common cause of delayed puberty and is considered a normal variant. It is due to a transient functional defect in production of GnRH from the hypothalamus secondary to genetic factors and results in puberty beginning later than the typical age, but puberty then progressing normally afterward. An affected child typically presents in early adolescence, when peers are beginning to develop and have growth spurts, but the patient is not. The patient's height is typically at or below the 3^rd percentile for age. Family history of delayed puberty in a parent or the presence of “late bloomers” in the family is positive in 50% of the patients. The physical examination findings may reveal delayed adrenarche and gonadarche but are otherwise unremarkable. Pubertal delay can lead to significant psychosocial distress in teens and their families. Without intervention, final adult height usually reaches or approximates the target height range.

The diagnosis of CDPG starts with taking a focused history including the growth and pubertal trends of the family members. Physical examination should assess testicular volume and Tanner stage. Initial investigations include luteinizing hormone, follicle-stimulating hormone, testosterone, estradiol, thyroid studies, prolactin, and radiological imaging for bone age should be ordered. The absence of chronic disease, excessive stress, and neurological signs and symptoms, and the presence of prepubertal levels of gonadotropins and sex hormones with normal thyroid and prolactin levels, delayed bone age, and positive family history can be used to make the diagnosis of CDPG.

Option Analysis

❌ Central nervous system (CNS) tumor :
Incorrect: CNS tumors like pituitary adenomas can lead to delayed puberty and patients typically present with headaches, visual disturbances, prepubertal gonadotropins and sex hormones, and delayed bone age. This patient has no history of neurological deficits or symptoms of a CNS tumor. This patient’s personal and family history of delayed puberty is more suggestive of constitutional delay.

✅ Constitutional delay :
Correct: See Main Explanation.

❌ Hyperprolactinemia :
Incorrect: Hyperprolactinemia typically caused by pituitary adenoma can lead to delayed puberty, gynecomastia, nipple discharge, and CNS symptoms not noted in this patient. This patient’s personal and family history of delayed puberty is more suggestive of constitutional delay.

❌ Genetic syndrome :
Incorrect: Genetic syndromes can lead to delayed puberty; Patients with Kleinfelter syndrome tend to be tall in stature and patients with Kalman syndrome often have associated anosmia. This patient’s personal and family history of delayed puberty is more suggestive of constitutional delay.

❌ Radiation exposure :
Incorrect: Radiation exposure can lead to delayed puberty secondary to acquired hypergonadotropic hypogonadism. This patient has no history of radiation exposure, making this an unlikely cause of his pubertal delay. This patient’s personal and family history of delayed puberty is more suggestive of constitutional delay.

Congenital And Developmental Anomalies

Study Mode

Test Mode