MEDizzy - A 15-year-old boy was referred to the endocrine clinic due

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Reproductive endocrinology

A 15-year-old boy was referred to the endocrine clinic due to his short stature (155 cm) and delayed puberty. He had a sister who had attained puberty at 12 years of age. His father and mother had a height of 172 and 165 cm, respectively. He had not suffered from any systemic illness or anosmia. On examination, he had sparse body and pubic hair, and his phallus size was small, with testes measuring 4 mL in size bilaterally. Investigations: FSH 3.3 U/L (1.4–18.1) LH 4.0 U/L (3.0–8.0) testosterone 5.8 nmol/L (8–32) prolactin 425 mU/L (45–375) Which one of the following is the probable diagnosis, based on his clinical profile?

ExplanationB. The first sign of puberty in boys is usually an increase in the size and volume of the testes due to a FSH-stimulated increase on seminiferous tubular development. Pubic hair growth takes place as a result of adrenal and testicular androgen secretion. Constitutional delay (CD) is one of the commonest etiology, leading to short stature and delayed puberty in the adolescent age group. It should be considered if there is a lack of signs of puberty at age 13–15 and 14–16 years in girls and boys, respectively. There is usually a family history of CD. In most of cases, it is not pathological and represents the extreme end of normal physiology. The growth and development of such individuals is appropriate for their skeletal age, rather than chronological age. Our patient presented with a lack of pubertal development and delayed growth at age 15 years, raising the probability of CD. The differential diagnosis hypogonadotropic hypogonadism is in view of the low testosterone and inappropriately normal gonadotropin levels.