scholarly journals Distinguishing Constitutional Delay of Growth and Puberty from Isolated Hypogonadotropic Hypogonadism: Critical Appraisal of Available Diagnostic Tests

2012 ◽  
Vol 97 (9) ◽  
pp. 3056-3067 ◽  
Author(s):  
Jennifer Harrington ◽  
Mark R. Palmert
Keyword(s):  
Diagnostic Tests ◽  
Critical Appraisal ◽  
Hypogonadotropic Hypogonadism ◽  
Constitutional Delay

scholarly journals ENDO-ERN expert opinion on the differential diagnosis of pubertal delay

Endocrine ◽  
2021 ◽  
Author(s):  
Luca Persani ◽  
Marco Bonomi ◽  
Martine Cools ◽  
Mehul Dattani ◽  
Leo Dunkel ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Expert Opinion ◽  
Diagnostic Tests ◽  
Scientific Community ◽  
Hypogonadotropic Hypogonadism ◽  
Differential Diagnoses ◽  
Hypergonadotropic Hypogonadism ◽  
Congenital Hypogonadotropic Hypogonadism ◽  
Pubertal Delay ◽  
Constitutional Delay

AbstractThe differential diagnoses of pubertal delay include hypergonadotropic hypogonadism and congenital hypogonadotropic hypogonadism (CHH), as well as constitutional delay of growth and puberty (CDGP). Distinguishing between CDGP and CHH may be challenging, and the scientific community has been struggling to develop diagnostic tests that allow an accurate differential diagnosis. Indeed, an adequate and timely management is critical in order to enable optimal clinical and psychosocial outcomes of the different forms of pubertal delays. In this review, we provide an updated insight on the differential diagnoses of pubertal delay, including the available tests, their meanings and accuracy, as well as some clues to effectively orientate towards either constitutional pubertal delay or pathologic CHH and hypergonadotropic hypogonadism.

Delayed Puberty

2020 ◽  
Author(s):  
Amanda French
Keyword(s):  
Pubertal Timing ◽  
Hormone Replacement ◽  
Hypogonadotropic Hypogonadism ◽  
Disease Process ◽  
Optimal Growth ◽  
Underlying Disease ◽  
Delayed Puberty ◽  
Hypergonadotropic Hypogonadism ◽  
Pubertal Delay ◽  
Constitutional Delay

Although common, delayed puberty can be distressing to patients and families.   Careful assessment is necessary to ensure appropriate physical and social development in patients that require intervention to reach pubertal milestones and achieve optimal growth.  Most pubertal delay is from lack of activation of the hypothalamic-pituitary-gonadal axis which then results in a functional or physiologic GnRH deficiency.  The delay may be temporary or permanent.  Constitutional delay (CDGP), also referred to as self-limited delayed puberty (DP), describes children on the extreme end of normal pubertal timing and is the most common cause of delayed puberty, representing about one third of cases.  Hypergonadotropic hypogonadism (primary hypogonadism) results from a failure of the gonad itself, and hypogonadotropic hypogonadism (secondary hypogonadism) results from a failure of the hypothalamic-pituitary axis, which is usually caused by another process, often systemic.  Diagnosis is based on history and examination.  Treatment is based on the underlying cause of pubertal delay and may include hormone replacement.  Involving a pediatric endocrinologist should be considered.  Appropriate counseling and ongoing support are important for all patients and families, regardless of underlying disease process.   This review contains 4 figures, 4 tables, and 32 references. Keywords: puberty, delayed puberty, hypogonadism, hypogonadotropic hypogonadism, hypergonadotropic hypogonadism, menarche, thelarche, constitutional delay and growth in puberty, Turner syndrome

Longitudinal Increases in Serum Insulin-like Factor 3 and Testosterone Determined by LC-MS/MS in Pubertal Danish Boys

2020 ◽  
Vol 105 (10) ◽  
pp. 3173-3178 ◽  
Author(s):  
Jakob Albrethsen ◽  
Marie Lindhardt Ljubicic ◽  
Anders Juul
Keyword(s):  
Serum Insulin ◽  
Hypogonadotropic Hypogonadism ◽  
Peptide Hormone ◽  
Delayed Puberty ◽  
Serum Concentrations ◽  
Serum Lh ◽  
Constitutional Delay ◽  
Diagnostic Role

Abstract Background Serum concentrations of the peptide hormone insulin-like factor 3 (INSL3) is a candidate marker for improved distinction between constitutional delay of growth and puberty (CDGP) and permanent hypogonadotropic hypogonadism (HH) in boys. Aim To assess the possible diagnostic role of LC-MS/MS-based INSL3 measurements as a marker of imminent puberty by comparison with testosterone (T) and luteinizing hormone (LH) levels in serum longitudinally collected from 18 healthy boys throughout puberty. Results The first increase in serum LH was detected on average 4 months earlier, as compared with the first observed increases in INSL3 and T. When comparing the 2 testicular hormones only, we found that in 22% (4 of 18) of the boys the first increase in serum INSL3 was observed prior to the first observed increase in T, whereas in 44% (8 of 18) the first increase in T was observed before the first observed increase in INSL3. In the remaining 6 boys, the 2 testicular hormones showed the first increase at the same examination. Conclusion In some boys with delayed puberty, the first indication of testicular maturation may be detectable by observing serum INSL3. Further studies of LC-MS/MS determination of serum INSL3 in patients with CDGP and HH are warranted.

The role of gene defects underlying isolated hypogonadotropic hypogonadism in patients with constitutional delay of growth and puberty

2011 ◽  
Vol 95 (8) ◽  
pp. 2756-2758 ◽  
Author(s):  
Kirsi Vaaralahti ◽  
Karoliina Wehkalampi ◽  
Johanna Tommiska ◽  
Eeva-Maria Laitinen ◽  
Leo Dunkel ◽  
...  
Keyword(s):  
Hypogonadotropic Hypogonadism ◽  
Constitutional Delay ◽  
Gene Defects
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