Summary
Definition
History and exam
Key diagnostic factors
- boys: testes <3 mL
- girls: absent breast development
- absent pubic/axillary hair
- absence of menarche
- absent growth spurt
- anosmia
Risk factors
- FHx of delayed puberty
- congenital pituitary structural abnormalities
- gene mutations
- chromosomal disorders
- syndromic diagnosis
- eating disorders
- chronic systemic illness
- malnutrition
- intense exercise
- congenital testicular abnormalities
- acquired gonadal abnormalities
- pituitary surgery
- adrenal hypoplasia
- chemotherapy
- radiation therapy
- histiocytosis
- sickle cell disease
- iron overload (associated with transfusion)
Diagnostic investigations
Investigations to consider
- LHRH stimulation test
- hCG stimulation test
- MRI brain
- karyotype
- ultrasound pelvis and abdomen
- echocardiogram
- serum ovarian autoantibodies
- assessment of olfaction
- TFTs
- serum prolactin
- other pituitary hormone investigations
Treatment algorithm
Contributors
Authors VIEW ALL
Paediatric Endocrinologist
London
UK
Disclosures
AM is an author of several articles cited in this monograph.
Professor of Paediatric Endocrinology
University College London
London
UK
Disclosures
PH is an author of several articles cited within this monograph.
Peer reviewers VIEW ALL
Assistant Professor of Pediatrics
University of Chicago
Chicago
IL
Disclosures
DD declares that she has no competing interests.
Consultant Paediatric Endocrinologist
Chelsea and Westminster Hospital
Honorary Senior Lecturer
Imperial College School of Medicine
London
UK
Disclosures
NB declares that she has no competing interests.
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