Evaluation of 451 Danish Boys With Delayed Puberty: Diagnostic Use of a New Puberty Nomogram and Effects of Oral Testosterone Therapy

Lawaetz, Jacob Gerner; Hagen, Casper P; Mieritz, Mikkel G; Jensen, Martin Blomberg; Petersen, Jørgen Holm; Juul, Anders

doi:10.1210/jc.2014-3631

Cited by 128 publications

(87 citation statements)

References 32 publications

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“…This is of interest since most studies dealing with CDG focus on boys [9,31,32]. Delay in the onset of puberty, which is associated with CDG, is a condition more common in boys than in girls [9].…”

Section: Discussionmentioning

confidence: 99%

Progressive Decline in Height Standard Deviation Scores in the First 5 Years of Life Distinguished Idiopathic Growth Hormone Deficiency from Familial Short Stature and Constitutional Delay of Growth

Rothermel

Lass²,

Toschke³

et al. 2016

Horm Res Paediatr

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Background: Familial short stature (FSS) and constitutional delay of growth (CDG) are the most frequent norm variants in children presenting with short stature. Knowing the growth patterns of these entities in the first years of life might be helpful to distinguish them from growth hormone deficiency (GHD) or other chronic diseases. Methods: We studied the height in the first 5 years of life in 26 children with FSS, in 38 children with CDG and in 14 children with idiopathic GHD. Results: Height standard deviation scores (SDS) did not change between birth and 6 months of life, while height SDS decreased significantly afterwards in GHD, FSS, and CDG. The loss of height SDS was higher in the first 2 years of life than between 2 and 5 years of life in children with CDG (-0.92 vs. -0.11; p = 0.003) or FSS (-0.79 vs. -0.01; p = 0.002). In idiopathic GHD, the loss of height SDS did not differ between the first 2 years of life and the next 3 years (-0.78 vs. -0.77; p = 0.821). Conclusion: Children with FSS and CDG showed a decline in height SDS mainly in the first 2 years of life, whereas the height SDS of children with idiopathic GHD decreased almost continuously over the first 5 years of life.

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Section: Discussionmentioning

confidence: 99%

Progressive Decline in Height Standard Deviation Scores in the First 5 Years of Life Distinguished Idiopathic Growth Hormone Deficiency from Familial Short Stature and Constitutional Delay of Growth

Rothermel

Lass²,

Toschke³

et al. 2016

Horm Res Paediatr

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“…[92][93][94] Adolescents with CHH exhibit steady linear growth and thus lack the so-called growth spurt. 91,95,96 Given the delayed epiphyseal closure, these individuals often have eunuchoidal proportions. The most common complaints in male adolescents with CHH include absent and/or minimal viriliza tion, low libido and lack of sexual function.…”

Section: Adolescentmentioning

confidence: 99%

“…99,100 The clinical heterogeneity of CHH makes differentiation from CDGP, which is usually associated with short stature, poor growth velocity and delayed skeletal maturation, difficult. 90,95 The presence of micropenis and/or cryptorchidism argues firmly in favour of CHH, as these features are rarely seen in CDPG. Associated congenital phenotypes are also very useful as they indicate a syndromic form of CHH.…”

Section: Adolescentmentioning

confidence: 99%

“…Such regimens help mimic natural puberty and maximize statural growth while affording time for psycho sexual development and minimizing the risk of precocious sexual activity. 95,174 Adult endocrinologists often see patients with CHH in late adolescence or early adulthood when the main complaint is the lack of pubertal development. 94 In such cases, the therapeutic approach is often more incisive than for younger patients, involving higher initial testosterone doses (200 mg testosterone enanthate monthly, then every 2-3 weeks) than those used by paediatric endocrinologists to induce more rapid virilization (Box 4).…”

Section: Induction Of Male Sexual Characteristicsmentioning

confidence: 99%

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European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment

et al. 2015

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| Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder caused by the deficient production, secretion or action of gonadotropin-releasing hormone (GnRH), which is the master hormone regulating the reproductive axis. CHH is clinically and genetically heterogeneous, with >25 different causal genes identified to date. Clinically, the disorder is characterized by an absence of puberty and infertility. The association of CHH with a defective sense of smell (anosmia or hyposmia), which is found in ~50% of patients with CHH is termed Kallmann syndrome and results from incomplete embryonic migration of GnRHsynthesizing neurons. CHH can be challenging to diagnose, particularly when attempting to differentiate it from constitutional delay of puberty. A timely diagnosis and treatment to induce puberty can be beneficial for sexual, bone and metabolic health, and might help minimize some of the psychological effects of CHH. In most cases, fertility can be induced using specialized treatment regimens and several predictors of outcome have been identified. Patients typically require lifelong treatment, yet ~10-20% of patients exhibit a spontaneous recovery of reproductive function. This Consensus Statement summarizes approaches for the diagnosis and treatment of CHH and discusses important unanswered questions in the field.

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“…Of course this does not mean that current definitions cannot be changed based on new insights. As an example, there may be good reasons to adapt the definitions of precocious, advanced, and delayed puberty in a future revision of the ICPED, by including pubertal stage standard deviation score (SDS), as recently proposed [8,9]. …”

mentioning

confidence: 99%

International Classification of Pediatric Endocrine Diagnoses

Wit

2016

Horm Res Paediatr

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Evaluation of 451 Danish Boys With Delayed Puberty: Diagnostic Use of a New Puberty Nomogram and Effects of Oral Testosterone Therapy

Cited by 128 publications

References 32 publications

Progressive Decline in Height Standard Deviation Scores in the First 5 Years of Life Distinguished Idiopathic Growth Hormone Deficiency from Familial Short Stature and Constitutional Delay of Growth

Progressive Decline in Height Standard Deviation Scores in the First 5 Years of Life Distinguished Idiopathic Growth Hormone Deficiency from Familial Short Stature and Constitutional Delay of Growth

European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment

International Classification of Pediatric Endocrine Diagnoses

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