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Childhood growth in boys with congenital hypogonadotropic hypogonadism

Tero Varimo1, Matti Hero1, Eeva-Maria Laitinen2

  • 1Children's Hospital, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.

Pediatric Research
|January 1, 2016
PubMed

Insights

Congenital hypogonadotropic hypogonadism (CHH) shows growth deceleration in early childhood, with final height aligning with target height. Growth patterns do not aid in diagnosing CHH genetic causes.

Area of Science:

  • Pediatric Endocrinology
  • Genetics
  • Growth and Development

Background:

  • Congenital hypogonadotropic hypogonadism (CHH) is a rare endocrine disorder.
  • Understanding CHH's impact on childhood growth is crucial for early detection and management.
  • Genotype-phenotype correlations are key to understanding CHH's diverse presentations.

Purpose of the Study:

  • To analyze childhood growth patterns in patients with CHH.
  • To investigate the relationship between CHH genotypes and growth phenotypes.
  • To determine if growth patterns can guide genetic diagnosis in CHH.

Main Methods:

  • Retrospective analysis of growth charts from 36 males with CHH.
  • Evaluation of growth measurements, including length standard deviation scores (SDS) from birth.
  • Genetic verification of CHH diagnosis in a subset of patients (KAL1, FGFR1, GNRHR, PROK2).

Main Results:

  • A significant deceleration in growth rate was observed during early childhood.
  • Height SDS decreased from birth through the first six months of life.
  • Final adult height did not differ from mid-parental target height, despite pubertal failure.

Conclusions:

  • Moderate postnatal length deflection is a notable feature of CHH, potentially indicating early androgen deficiency.
  • Childhood growth patterns are not clinically useful for directing molecular genetic testing in CHH.
  • Further research into early androgen deficiency markers in CHH is warranted.
Abstract

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