Endocrine Abstracts

Delayed puberty (DP) is traditionally defined as the absence of testicular enlargement by the age of 14 years in boys and absence of breast development by 13 years in girls (1). In both sexes, DP is most frequently caused by constitutional delay of growth and puberty (CDGP), which represents a late variant of the normal timing of puberty (1-3). Other possible causes for DP include permanent hypogonadotropic hypogonadism (HH), functional hypogonadotropic hypogonadism and hypergonadotropic hypogonadism due to gonadal failure. Differential diagnosis of DP can be sometimes challenging, and especially, differentiating between CDGP and partial congenital HH can be notoriously difficult, if not impossible. In our recent analysis of a large patient series from a single academic center, we described the etiology of DP in 174 boys and 70 girls, identified prognostic markers to help the diagnostic procedure, and investigated the relationship between linear growth and different etiologies of DP (3). In this case-based session, we will briefly review the basic concepts of puberty, consider different aspects of the diagnostic procedure in patients with DP in the light of this data, review the treatment options, and discuss the importance of accurate and timely diagnosis.

References and recommended reading:

1. Palmert MR, Dunkel L. Clinical practice. Delayed puberty. N Engl J Med 2012 366 443–453.

2. Sedlmeyer IL, Palmert MR. Delayed puberty: analysis of a large case series from an academic center. J Clin Endocrinol Metab 2002 87 1613–1620.

3. Varimo T, Miettinen PJ, Känsäkoski J, Raivio T, Hero M. Congenital hypogonadotropic hypogonadism, functional hypogonadotropism or constitutional delay of growth and puberty? An analysis of a large patient series from a single tertiary center. Hum Reprod. 2017 32 147–153.

4. Boehm U, Bouloux PM, Dattani MT, de Roux N, Dodé C, Dunkel L, Dwyer AA, Giacobini P, Hardelin JP, Juul A, Maghnie MO, Pitteloud N, Prevot V, Raivio T, Tena-Sempere M, Quinton R, Young J. Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism–pathogenesis, diagnosis and treatment. Nat Rev Endocrinol. 2015 11 547–564.