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Delayed puberty (Diagnosis (History (FH Endocrine disorders, congenital…
Delayed puberty
Diagnosis
Examination
General
Minimal secondary sexual
characteristics
Investigation
Bloods
FBC, U+E, B12/folate, LFT, TFT
Immune screen (Coeliac)
Hormones (GnRH, LH/FSH, oestrogen, testosterone, androgens)
Karyotyping (Turners, Kleinfelters)
Imaging
X-ray wrist: bone age
USS (F): uterine thickness and shape
CT/MRI head: intracranial tumour
Bedside
Obs
Measurements (height, weight, BMI)
Tanner staging
History
FH
Endocrine disorders, congenital disorders,
delayed puberty
SH
Living arrangements, schooling,
alcohol, drugs, sex
DH
Meds, allergies
PMH
Growth and development
Known medical conditions
PC/HPC
Delayed characteristics, order of development,
any headache/visual symptoms, weight loss
Management
Conservative
Information, advice, support
Identify and treat cause
Refer to paeds/endocrine
Medical
Androgens
Indication: young males
MOA: induces catch up growth
(but not puberty)
Testosterone
Indication: older males
MOA: induces puberty
Oestrogen
Indication: females
MOA: induces puberty
Pathophysiology
Hypogonadotrophic hypogonadism
Pathology in hypothalamus/pituitary resulting in low level Gn release
E.g. Gn/GH deficiency, Kallman syndrome, intracranial tumour, excess exercise, malabsorption, anorexia
Hypergonadotrophic hypogonadism
High level of Gn release, but peripheral tissues are insensitive (peripheral pathology)
E.g. local trauma, genetic disorder, deficient steroid hormone
Aetiology
Secondary
Trauma: gonadal RT,chemo, testicular torsion
Metabolic: excess exercise, malabsorption (Coeliac/IBD, CF)
Neoplastic: intracranial tumour
Congenital/genetic: Turner's, Kleinfelters
Endocrone: Gn/GH deficiency, Kallman syndrome (LH deficiency),
steroid hormone deficiency disorders
Functional: anorexia
Primary
Idiopathic/familial
Complications
Psychosocial
Low self esteem, bullying
Definition
Absent puberty development
(14y F, 15y M)
Epidemiology
More common M>F
Clinical
presentation
Delayed secondary
sexual characteristics
versus peers