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Delayed puberty
Gary Butler1, Preetha Purushothaman2,3
1Department of Pediatric and Adolescent Endocrinology, University College London Hospital, London, UK - gary.butler@ucl.ac.uk.
Minerva Pediatrica
|August 5, 2020
Summary
Delayed puberty, affecting normal development, requires medical evaluation to distinguish causes like hypogonadotropic hypogonadism from constitutional delay. Treatment involves hormone therapy and supportive counseling for adolescents.
Area of Science:
- Pediatrics
- Endocrinology
- Genetics
Background:
- Puberty onset and completion have defined age ranges, with delays impacting adolescent development.
- Delayed puberty necessitates excluding medical, psychological, and gonadal etiologies.
Purpose of the Study:
- To outline the diagnostic and management strategies for delayed puberty in adolescents.
- To differentiate between central (hypogonadotropic hypogonadism) and gonadal (hypergonadotropic hypogonadism) causes.
- To highlight the role of genetics in distinguishing conditions like constitutional delay of growth and puberty (CDGP).
Main Methods:
- Detailed patient history and clinical examination to identify pubertal signs.
- Targeted investigations to rule out medical causes and determine the type of hypogonadism.
- Genetic profiling to differentiate CDGP from congenital hypogonadotropic hypogonadism.
Main Results:
- Delayed puberty can stem from central gonadotropin deficiency or gonadal disorders.
- Constitutional delay of growth and puberty (CDGP) is a diagnosis of exclusion, more common in boys.
- Distinct genetic profiles exist for CDGP and congenital hypogonadotropic hypogonadism.
Conclusions:
- Accurate diagnosis of delayed puberty requires a comprehensive approach, including genetic analysis.
- Treatment involves sex steroid replacement therapy, mimicking natural pubertal progression.
- Psychological support and counseling are crucial components in managing adolescents with delayed puberty.
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