ESPE Yearbook of Paediatric Endocrinology

Brief summary: This retrospective study describes patients diagnosed with delayed puberty in a single tertiary care center in Sudan. The frequencies of various etiologies of delayed puberty are described.

Delayed puberty is a common cause for referral to endocrinology clinics, usually due to concerns about height or future fertility. This retrospective study summarises the characteristics of patients with delayed puberty seen in the endocrinology unit at Gaffar Ibn Auf Children’s Hospital, Sudan. 136 patients met the criteria for delayed or arrested puberty using standard definitions. The etiology was classified based on gonadotropin and sex steroid measurements, and GnRH stimulation testing, as: constitutional, functional, or permanent hypogonadotropic, permanent hypergonadotropic or unclassified.

The series comprised 83 males (61.1%) and 53 females (38.9%) who presented with short stature in the majority (n=71, 52.2%), followed by both short stature and delayed puberty (n=37, 27.2%), and delayed puberty alone (n=28, 20.6%). The median age of presentation for males was 16 years and for females was 14 years. The most common etiologies were permanent hypogonadotropic hypogonadism (37.5%) and functional hypogonadotropic hypogonadism (36%) with constitutional delay of growth and puberty (CGDP) found in only 14.7%. These data are in contrast with other studies where CGDP is the most common cause of delay. Hypergonadotropic hypogonadism was diagnosed in 11.7%, the majority of whom were female.

This pattern of delayed puberty etiology dominated by permanent hypogonadotropic hypogonadism and functional hypogonadotropic hypogonadism is different from that seen in developed countries, but similar to patterns seen in other underdeveloped countries. Functional hypogonadotropic hypogonadism was associated with underlying chronic disease in 65% of patients. These results may reflect some referral bias with a low rate of CDGP, but also the importance of appropriate chronic disease treatment, general health and nutrition reflected in the high rate of functional hypogonadism.