Common in newborns, presumably due to maternal hormones. Bud underneath the surface, plus swelling of areola/nipple area.
Another peak around puberty, can be unilateral, can be tender. Can progress to be cosmetically problematic.
Exclude a hormonal problem (including prolactinoma and other hormonal tumour):
- Delayed puberty with no development of penis/testes, no axillary/pubic hair
- Testicular mass
Tanner stages – verbal descriptions but images helpful esp for self assessment.
Pubic Hair Scale (both males and females)
- Stage 1: No hair
- Stage 2: Downy hair
- Stage 3: Scant terminal hair
- Stage 4: Terminal hair that fills the entire triangle overlying the pubic region
- Stage 5: Terminal hair that extends beyond the inguinal crease onto the thigh
Female Breast Development Scale
- Stage 1: No glandular breast tissue palpable
- Stage 2: Breast bud palpable under the areola (1st pubertal sign in females)
- Stage 3: Breast tissue palpable outside areola; no areolar development
- Stage 4: Areola elevated above the contour of the breast, forming a “double scoop” appearance
- Stage 5: Areolar mound recedes into single breast contour with areolar hyperpigmentation, papillae development, and nipple protrusion
For males you then have testicular volume, measured by orchidometer (between £26 and £208):
- 4 ml (1.8cm long by formula below) is first pubertal sign
- Adult is >20 ml (or >3 cm long)
Cadbury’s Teasers and Truffles (from Celebrations box) are 8ml, equivalent to 50th centile at age 13.
If you only have a ruler, use maximum width in millimetres and the formula: (W-1.5)3 x 0.88, where ss is double scrotal skin thickness (for Tanner stages 1, 2, and 3).
In neonates and infants, the stretched penile length is at least 2cm in 97% of boys.
Micropenis describes a shorter penis than this, that is otherwise of normal form. Penis needs to be stretched out, and suprapubic fat pad pushed in.
Causes are hypogonadotrophic (Kallman’s syndrome, Laurence-Moon-Biedel-Bart, Prader-Willi) or hypogonadism (anorchia or testicular dysgenesis, Trisomy 21, Noonans, Klinefelter). May be part of more complex syndrome.
Differential is intersex, “buried penis” due to suprapubic fat pad (usually obese), chordee.
Neat trick is to modify a 10ml syringe by cutting off needle end and inserting plunger into cut end. Gives you scale and stretches penis!
Note puberty lines on RCPCH growth charts, for starting puberty (girls 8), delayed beginning (girls 13, boys 14) and completing (girls 16, boys 17). Delayed completion (especially menses) also needs investigation. Also a shaded triangle for short boys and girls during this time, to remind that probably ok if puberty not yet started, but potentially a problem if nearly completing.
In girls, rule out Turner’s syndrome.
Otherwise look for evidence of dysmorphism, that might suggest another chromosomal or genetic issue, and evidence for broader pituitary issue (midline facial defects, visual defects, poor growth, child looks younger than their age).
If not central, then must be gonadal issue – check testes, do USS scan to look at ovaries.
Blood tests then to assess pituitary hormones, particularly FSH/LH, plus oestradiol and testosterone.
In girls with amenorrhoea but normal pubertal progression, haematocolpos due to imperforate hymen presents with abdominal pain, urinary retention.
Excessive cortisol due to an ACTH secreting tumour. In children, Cushing’s syndrome usually due to steroid treatment.
Manifests as dramatic weight gain, usually with angry striae, growth arrest (in terms of height), change in facial appearance, buffalo hump, hypertension.
These findings are hard to spot given that obesity with striae (and hypertension) in children common. Main clue is height centile below mean (and below MPH). Delayed bone age also a clue, as both of these things tend to be above normal in obese children.
Investigation is tricky as pituitary adenomas are not always seen on MRI and petrosal sinus sampling for cortisol is sometimes required! Even exclusion is tricky, requiring 24hr urinary cortisol collection over 3 days, low dose dexamethasone suppression testing.
CRH test done as part of work up, to see if ACTH is ectopic, which is exceptionally rare. Increased response to CRH test is almost diagnostic for Cushing’s though! High dose dexamethasone suppression rarely done.
Cortisol over 800 excludes a problem, normal response to Syncathen test (ACTH) at 1 hr should be over 470nmol/l (over 6yrs), 650 (under 6yrs).
Primary adrenal insufficiency – congenital adrenal hyperplasia (mostly 21OH deficiency), else autoimmune, genetic, infiltrative, adrenleukodystrophy (and exogenous steroid suppression).
Classic Addisonion picture – low sodium, high potassium, hyperpigmentation (can look slim and tanned, so misleadingly healthy!).
Physiological hydrocortisone replacement =10mg/m2/d in 3-4 divided doses. Medication alert bracelet recommended, in case of crisis. Monitor growth, BP.
If unwell, double HC dose (if varying
doses, double highest dose) and give it three times daily. IM if necessary, +/-
Secreted from the anterior pituitary (along with growth hormone, ADH, ACTH, TSH, FSH/LH), but also a stress hormone (can be used to distinguish pseudo seizures from epileptic seizures). So can go up to 1000 in healthy people. Always worth repeating a high result at least 24hrs hours later, after a 20 minute rest.
Important because of prolactinomas, which can cause:
- delayed puberty
- space occupying lesion effects – headaches, visual field defects
Any lesion in the vicinity of the pituitary may also cause raised prolactin so not specific.
In children, high levels can be due to presence of macroprotein isoforms, which are not considered pathological – lab can check.
In children under 10, high BP is usually secondary to an underlying disease or condition. Primary hypertension increasingly recognised in older, obese children.
Do repeated measurements, ideally automated home BP monitoring, before diagnosing hypertension. Check manually as well as with automated device. Beware “white coat effect”, even if not clearly anxious.
Use appropriate cuff size – cuff should cover at least 75% of the upper arm from the acromion to the olecranon (should be sufficient space at the antecubital fossa to apply stethoscope!) . An inappropriately small cuff will overestimate BP.
Long list of causes, so follow the clues.
- Cardiac – coarctation of aorta.
- Renal – chronic pyelonephritis, dysplastic, glomerulonephritis, Acute kidney injury, polycystic kidney disease, renal artery stenosis or renal vein thrombosis etc
- Intracranial hypertension!
- Endocrine – hyperthyroidism, phaeochromocytoma, neuroblastoma, congenital adrenal hyperplasia
- Drugs, esp for ADHD, depression, immunosuppression
Family history important, of course.
So needs thorough history and examination, including:
- Bruits, radiofemoral delay
- Neck for goitre
Consider then end organ effects –
- Proteinuria, high creatinine
- Left ventricular hypertrophy, cardiac failure
- Abnormal tone and reflexes, cranial nerve deficits if severe
Depends on how high, whether other risk factors (diabetes, chronic kidney disease), symptoms and evidence of end organ damage.
Initially low salt diet, weight loss (if obese). Remember other morbidities related to obesity.
Acute hypertension might need frusomide and/or nifedipine.
Long term treatment is only going to be started if no improvement with lifestyle measures. Target BP depends on risk factors, as above.
[2016 European Society for Hypertension guidelines]
Are they really? Plot height and weight, and check figures if in doubt!
- More than 2 standard deviations below mean worthy of investigation,
- more than 2 standard deviations below mean parental height.
- Height velocity less than 5cm per year
Is there evidence of chronic disease? Needs full history and examination, including urine dip. Common things would be renal failure, coeliac disease, IBD, hypothyroidism. Endocrine causes tend to produce relatively heavy children, other chronic diseases tend to produce relatively slight children.
Are they dysmorphic? Main syndromes to look out for:
- Turners – besides short stature, webbed neck, characteristic facies, short metacarpals, broad chest with widely spaced nipples, hyperconvex fingernails and toenails (but can be missed); decreased growth velocity and delayed puberty
- Short limbs – SHOX mutations eg Leri-Weill dyschrondeostosis but milder variants. Classically mesomelia (short proximal bones) and Madelung deformity (wrist) but these may only become obvious in later childhood.
- Achondroplasia or hypochondroplasia (FGFR3 (Fibroblast Growth Factor Receptor 3) mutations)
Bone age will be delayed in all except familial and idiopathic. Progressively falls behind in endocrine disorders.
Constitutional delay – good weight at birth, then “catch down” growth, dropping through centiles in infancy. Growth velocity is then normal, but with delayed bone age and delayed puberty.
Small for gestational age babies tend to catch up in first few years of life with their genetic potential, but can take up 4 years or more. 10% however remain small (more than 2 SDs below MPH) through life. Consider other causes if no catch up in first 6 months of life or still small at 2 years.
Growth hormone deficiency – can be congenital or acquired (head injury, meningitis etc). Early growth tends to be normal (growth hormone doesn’t contribute much in first few years of life). Look for microphallus and midline facial abnormalities.
- Karyotype if dysmorphic or if girl
- IGF1 – screening test for Growth hormone problems, but may need GH stimulation testing as limited reference ranges in under 2s
- U&Es, LFTs, CRP/ESR
- Bone age
Associated with other autoimmune conditions, of course, especially diabetes , Addisons and coeliac disease.
If high TSH and low T4, goitre and positive TPO antibodies, then diagnosis clear.
Isolated high TSH is seen with some drugs and after acute illness. Persistently high TSH and normal T4 might be subclinical hypothyroidism. Treatment is recommended if symptoms/signs, especially if TPO positive as likely to become hypothyroid at some point anyway (pregnancy and infertility are other indications).
If TPO neg and no signs/symptoms, USS can be useful just to confirm evidence of thyroiditis.
Management otherwise same as congenital hypothyroidism.