Delayed puberty laboratory findings

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Eiman Ghaffarpasand, M.D. [2]

Overview

Laboratory findings consistent with the diagnosis of delayed puberty include first line and second line tests. First line tests are including complete blood count, erythrocyte sedimentation rate, creatinine, electrolytes, bicarbonate, alkaline phosphatase, albumin, thyrotropin, free thyroxine, luteinizing hormone (LH), follicle stimulating hormone (FSH), insulin-like growth factor (IGF-1), and testosterone; In case of specific familial disorders, some special laboratory tests may be needed, indeed. These laboratory tests are including anti-gliadin antibody and anti-tissue transglutaminase antibody (i.e., Celiac disease diagnosis) or anti-neutrophil cytoplasmic antibodies (i.e., inflammatory bowel disease diagnosis). Second line tests are including gonadotropin-releasing hormone (GnRH), human chorionic gonadotropin (hCG) test, inhibin B, prolactin, and growth hormone (GH) test.

Laboratory Findings

Biochemistry laboratory tests

Abbreviations: CBC: Complete blood count, ESR: Erythrocyte sedimentation rate, Cr: Creatinine, HCO3: Bicarbonate, Alb: Albumin, T4: Thyroxin, TSH: Thyroid stimulating hormone, Anti TTg Ab: Anti transglutaminase antibody, ANCA: Antineutrophil cytoplasmic antibody, LH: Luteinizing hormone, FSH: Follicle stimulating hormone, IGF-1: Insulin-like growth factor 1, GnRH: Gonadotropi- releasing hormone, hCG: Human chorionic gonadotropin, PRL: Prolactin, GH: Growth hormone, Cl: Chlorine, WBC: White blood cell, RBC: Red blood cell, HGB: HemoglubinMCV: Mean corpuscular volume, AIDS: Acquired immunodeficiency syndrome, Lymph: Lymphocyte.

Delayed puberty

underlying diseases

First line tests Second line tests
CBC ESR Cr Electrolyte HCO3 ALK Alb T4 TSH Anti gliadin Ab Anti TTg Ab ANCA LH FSH IGF-1 Testosterone GnRH hCG test Inhibin B PRL GH
Idiopathic hypogonadotropic hypogonadism - - - - - - - - - - - - ↓↓ ↓↓ - ↓↓↓ - - - -
Hypergonadotropic hypogonadism - - - - - - - - - - - ↑↑ ↑↑ - ↓↓↓ - - - -
Constitutional delay of growth and puberty (CDGP) - - - - - - - - - - - - - - - - - + - -
Kallmann syndrome - - - - - - - - - - - - ↓↓ ↓↓ - ↓↓ ↓↓ - - - -
Cystic fibrosis - Cl disturbance - - - - - - - - - - - - -
Asthma ↑ Eosinophil - - - - - - - - - - - - - - -
Inflammatory bowel disease ↑ WBC ↑↑ - - - - - - - - - + - - - - -
Celiac disease - - - - - ↓↓ - - + + - - - - - -
Juvenile rheumatoid arthritis ↑ WBC ↑↑ - - - - - - - - - - - - - -
Anorexia nervosa/Bulimia ↓ HGB - - - - - - - - - - - - - -
Sickle cell disease ↓ HGB - - - - - - - - - - - - - -
Hemosiderosis - ↑↑ - - - - - - - - - - - - -
Thalassemia ↓ HGB, ↓ MCV - - - - - - - - - - - - - - - -
Chronic renal disease ↓ HGB ↑↑ ↑↑ ↑↑ ↓↓ - ↓↓ - - - - - - - - - -
AIDS ↓ CD4+ ↑↑ - - - - - - - - - - - - - - -
Diabetes mellitus ↓ HGB ↑↑ - - - - - - - - - - - - - - -
Hypothyroidism - - - - - - ↓↓ ↑↑ - - - - - - - -
Hyperprolactinemia - - - - - - - - - - - - - - - -
Growth hormone deficiency - - - - - - - - - - - - - - +
Cushing syndrome - - - - - - - - - - - - - - - - +
Chemotherapy/Radiation therapy Pancytopenia - ↑↑ ↑↑ ↓↓ ↑↑ - - - - - - - - - - -
Mumps, Coxsackie ↑ Lymph ↑↑ - - - - - - - - - - - - - -
Galactosemia - - ↑↑ - - - - - - - - - - -
Autoimmune oophiritis ↑ Lymph ↑↑ - - - - - - - - - - - - - - - -
Autoimmune orchitis ↑ Lymph ↑↑ - - - - - - - - - - - + - -
Turner syndrome - - - - - - - - - - - - - - - - -
Noonan syndrome - - - - - - - - - - - - - - - - -
Fragile X premutation - - - - - - - - - - - - - - - - -
Cryptorchidism - - - - - - - - - - - - - - - - -
Gonadal dysgenesis - - - - - - - - - - - - - - - - -
Vanishing testes syndrome - - - - - - - - - - - - - - - - -
Testicular torsion/trauma - - - - - - - - - - - - - - - - -

Complete blood count

Erythrocyte sedimentation rate

An elevated erythrocyte sedimentation rate (ESR) is diagnostic of most of the underlying diseases that may cause delayed puberty.

Creatinine

Some patients with delayed puberty may have elevated concentration of creatinine, which is usually suggestive of renal disease as the underlying cause.[2]

Electrolytes

Bicarbonate

Reduced bicarbonate concentration in serum may reveal the metabolic acidosis due to various causes, mostly chronic kidney injury, as the underlying cause of delayed puberty.[2]

Alkaline phosphatase

An elevated concentration of serum alkaline phosphatase is diagnostic of any liver or bone diseases, as the underlying cause of delayed puberty.

Histiocytosis, galactosemia induced hepatomegaly, and Gaucher's diseases are some of the examples.

Albumin

Some patients with delayed puberty may have reduced concentration of serum albumin, which is usually suggestive of liver or renal disease as the underlying cause.[3]

Thyrotropin

An elevated concentration of serum thyroid stimulating hormone (TSH) is diagnostic of hypothyroidism, as the underlying cause of delayed puberty.[4]

Free thyroxine

A reduced concentration of serum free thyroxine (T4) is diagnostic of hypothyroidism, as the underlying cause of delayed puberty.[4]

Anti-gliadin antibody

Some patients with delayed puberty may have the positive anti-gliadin antibody, which is usually suggestive of Celiac disease as the underlying cause.[5]

Anti-tissue transglutaminase antibody

Some patients with delayed puberty may have positive anti-tissue transglutaminase antibody, which is usually suggestive of Celiac disease as the underlying cause.[6]

Anti-neutrophil cytoplasmic antibodies

Some patients with delayed puberty may have positive anti-neutrophil cytoplasmic antibodies, which is usually suggestive of inflammatory bowel disease (IBD) as the underlying cause.[7]

Hormonal laboratory tests

Luteinizing hormone (LH)

  • It is measured in the morning, using immunochemiluminometric (ICMA) or immunofluorometric (IFMA) assays. These tests lower limit of detection is at or below 0.1 IU/liter.
  • When the LH level is very low, ICMA measures would be at least half of the IFMA measures.[8]
  • LH more than 0.6 by IFMA or 0.2 by ICMA shows central puberty initiation (high specificity, low sensitivity). If sexual characteristics are not shown up it may show primary hypogonadism.[8]
  • Generally, LH is a better marker for puberty initiation, while FSH is a better marker for gonadal failure.[4]

Follicle stimulating hormone (FSH)

  • It is measured on the morning, using ICMA or IFMA assays. These tests lower limit of detection is at or below 0.1 IU/liter.
  • When the FSH level is very low, ICMA measures would be at least half of the IFMA measures.[8]
  • FSH less than 0.2 by ICMA or 0.1 IU/liter by IFMA reflects hypogonadotropic hypogonadism, not diagnostic.[9]
  • Some patients with delayed puberty may have above normal FSH level, which is usually suggestive of inhibin B deficiency and of primary gonadal failure as underlying cause (high sensitivity, high specificity).

Insulin like growth factor (IGF-1)

  • It has to measured within 2 hours of sampling, to avoid false increase. The tests that measure the IGF-1 without IGF binding proteins interpretation are favorable only.
  • IGF-1 is a reflector of GH serum level. When it is elevated, before or after treatment, it is assumed as less probability of GH deficiency as underlying cause of delayed puberty.
  • When GH deficiency is suspected, GH provocation testes are necessary to approve the diagnosis.[10]

Testosterone

  • It is measured on the morning. The tests lower limit of detection is at or below 10 ng/liter (0.35 nm/L). The testosterone level has diurnal variation.
  • Morning serum level of equal or more than 20 ng/dL (0.7 nmol/L) is showing that the secondary sexual characteristics will be presented in 12 to 15 months.[11]

Gonadotropin releasing hormone (GnRH)

  • It is measured on any times of day.
  • Very high serum levels of LH (5-8 IU/liter) or dramatic LH response (compare to FSH) to GnRH stimulation test are suggestive of puberty onset.[8]
  • LH value of less than 0.8 IU/liter or FSH value of less than 1.1 IU/liter, by IFMA after GnRH, are more reflective of hypogonadotropic hypogonadism in boys.[8]

Human chorionic gonadotropin (hCG) test

Inhibin B

Prolactin

Growth hormone (GH) test

  • It is measured on any times of day.
  • A reduced concentration of growth hormone (GH) is diagnostic of GH deficiency, as underlying cause of delayed puberty.
 
 
 
 
 
 
 
 
 
 
 
 
 
Delayed puberty
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Clinical suspicion to delayed puberty
(Absent growth spurt along with
lack of testicular enlargement or breast development)
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
First line evaluation
• Biochemical analyses
Bone age radiography
• Basal serum LH, FSH, IGF-1, TSH, free thyroxine, and testosterone (in boys)
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Reduced or normal LH and FSH
 
 
 
 
 
 
 
 
 
Elevated FSH or LH
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Growth rate as prepubertal
 
 
 
 
 
Growth rate lower than prepubertal
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Constitutional delay of growth and puberty (CDGP)
 
Gonadotropin releasing hormone (GnRH) deficiency
 
Transient hypogonadotropic hypogonadism
 
Permanent hypogonadotropic hypogonadism
 
 
 
Hypergonadotropic hypogonadism
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Second line evaluation
 
 
 
 
Second line evaluation
 
 
 
 
 
Second line evaluation
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
GnRH test
hCG stimulation test
• Serum inhibin B
Olfactory-function test
Genetic testing
MRI
 
 
 
 
Evaluating more underlying diseases:
MRI
Prolactin
 
 
 
 
 
Evaluating more underlying diseases:
• Karyotype
• Serum inhibin B
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Low BMI
 
Normal BMI
 
High BMI
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
• GI disorder
Malnutrition
Anorexia
 
Hypothyreosis
Hyperprolactinemia
• Multiple pituitary hormone deficiency
 
Glucocorticoid excess (iatrogenic, Cushing’s disease)
Hypothyroidism
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Follow up
Evaluate the need for the induction of secondary sex characteristics
 
 
 
 
Treat underlying disease
 
 
 
 
 
Treat with sex steroids
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 

References

  1. Majaliwa ES, Mohn A, Chiarelli F (2009). "Growth and puberty in children with HIV infection". J. Endocrinol. Invest. 32 (1): 85–90. doi:10.1007/BF03345686. PMID 19337023.
  2. 2.0 2.1 2.2 Bacchetta J (2015). "[Puberty and chronic kidney disease]". Arch Pediatr (in French). 22 (5 Suppl 1): 169–71. doi:10.1016/S0929-693X(15)30084-1. PMID 26112575.
  3. Upreti V, Dhull P, Patnaik SK, Kumar KV (2012). "An unusual cause of delayed puberty: Berardinelli- Seip syndrome". J. Pediatr. Endocrinol. Metab. 25 (11–12): 1157–60. PMID 23444474.
  4. 4.0 4.1 4.2 4.3 4.4 Palmert, Mark R.; Dunkel, Leo (2012). "Delayed Puberty". New England Journal of Medicine. 366 (5): 443–453. doi:10.1056/NEJMcp1109290. ISSN 0028-4793.
  5. Bona G, Marinello D, Oderda G (2002). "Mechanisms of abnormal puberty in coeliac disease". Horm. Res. 57 Suppl 2: 63–5. doi:58103 Check |doi= value (help). PMID 12065930.
  6. Bona G, Marinello D, Oderda G (2002). "Mechanisms of abnormal puberty in coeliac disease". Horm. Res. 57 Suppl 2: 63–5. doi:58103 Check |doi= value (help). PMID 12065930.
  7. Sanderson IR (2014). "Growth problems in children with IBD". Nat Rev Gastroenterol Hepatol. 11 (10): 601–10. doi:10.1038/nrgastro.2014.102. PMID 24957008.
  8. 8.0 8.1 8.2 8.3 8.4 Resende EA, Lara BH, Reis JD, Ferreira BP, Pereira GA, Borges MF (2007). "Assessment of basal and gonadotropin-releasing hormone-stimulated gonadotropins by immunochemiluminometric and immunofluorometric assays in normal children". J. Clin. Endocrinol. Metab. 92 (4): 1424–9. doi:10.1210/jc.2006-1569. PMID 17284632.
  9. Grinspon RP, Ropelato MG, Gottlieb S, Keselman A, Martínez A, Ballerini MG, Domené HM, Rey RA (2010). "Basal follicle-stimulating hormone and peak gonadotropin levels after gonadotropin-releasing hormone infusion show high diagnostic accuracy in boys with suspicion of hypogonadotropic hypogonadism". J. Clin. Endocrinol. Metab. 95 (6): 2811–8. doi:10.1210/jc.2009-2732. PMID 20371659.
  10. Imran, Syed Ali; Pelkey, Michael; Clarke, David B.; Clayton, Dale; Trainer, Peter; Ezzat, Shereen (2010). "Spuriously Elevated Serum IGF-1 in Adult Individuals with Delayed Puberty: A Diagnostic Pitfall". International Journal of Endocrinology. 2010: 1–4. doi:10.1155/2010/370692. ISSN 1687-8337.
  11. Wu FC, Brown DC, Butler GE, Stirling HF, Kelnar CJ (1993). "Early morning plasma testosterone is an accurate predictor of imminent pubertal development in prepubertal boys". J. Clin. Endocrinol. Metab. 76 (1): 26–31. doi:10.1210/jcem.76.1.8421096. PMID 8421096.
  12. Segal TY, Mehta A, Anazodo A, Hindmarsh PC, Dattani MT (2009). "Role of gonadotropin-releasing hormone and human chorionic gonadotropin stimulation tests in differentiating patients with hypogonadotropic hypogonadism from those with constitutional delay of growth and puberty". J. Clin. Endocrinol. Metab. 94 (3): 780–5. doi:10.1210/jc.2008-0302. PMID 19017752.
  13. Coutant R, Biette-Demeneix E, Bouvattier C, Bouhours-Nouet N, Gatelais F, Dufresne S, Rouleau S, Lahlou N (2010). "Baseline inhibin B and anti-Mullerian hormone measurements for diagnosis of hypogonadotropic hypogonadism (HH) in boys with delayed puberty". J. Clin. Endocrinol. Metab. 95 (12): 5225–32. doi:10.1210/jc.2010-1535. PMID 20826577.
  14. Ali L, Adeel A (2012). "Role of basal and provocative serum prolactin in differentiating idiopathic hypogonadotropic hypogonadism and constitutional delayed puberty--a diagnostic dilemma". J Ayub Med Coll Abbottabad. 24 (2): 73–6. PMID 24397058.

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