scholarly journals Constitutional delay of growth and puberty is not commonly associated with mutations in the acid labile subunit gene.

2008 ◽  
Vol 158 (4) ◽  
pp. 473-477 ◽  
Author(s):  
I Banerjee ◽  
D Hanson ◽  
R Perveen ◽  
A Whatmore ◽  
G C Black ◽  
...  
Keyword(s):  
High Performance ◽  
Single Gene ◽  
Growth Failure ◽  
Delayed Puberty ◽  
Sequence Variants ◽  
Number Of Children ◽  
Pubertal Delay ◽  
Constitutional Delay ◽  
Acid Labile Subunit ◽  
Acid Labile

ObjectivesConstitutional delay of growth and puberty (CDGP) is a common clinical condition that may be inherited as an autosomal dominant, recessive or X-linked trait. However, single-gene defects underlying CDGP have not yet been identified. A small number of children (to date 10) with modest growth failure and in the majority delayed puberty, a phenotype similar to that of CDGP, have been reported to carry mutations in the IGF acid labile subunit (IGFALS) gene which encodes the ALS, a part of the ternary complex carrying IGF-I in the circulation. The aim of our study was to screen a well-characterised CDGP cohort exhibiting a range of growth retardation and pubertal delay for pathogenic sequence variants inIGFALS.Design and methodsWe used denaturing high performance liquid chromatography (dHPLC) to screen forIGFALSmutations in DNA samples from 90 children (80 males) with CDGP of predominantly White European origin. DNA fragments generating abnormal waveforms were directly sequenced.ResultsNoIGFALSmutation was identified in the coding sequences or exon–intron boundaries in our CDGP cohort. One abnormal waveform pattern in dHPLC in 15 children with CDGP was found to represent a recognised synonymous single-nucleotide polymorphism of the coding transcript in the second exon in residue 210 ofIGFALS.ConclusionsIGFALSsequence variants are unlikely to be a common association with pubertal delay in children with CDGP.

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

Testosterone Therapy for Pubertal delay

1992 ◽  
Vol 13 (1) ◽  
pp. 5-39
Keyword(s):  
Anabolic Steroids ◽  
Pubic Hair ◽  
Height Velocity ◽  
Delayed Puberty ◽  
Secondary Sexual Characteristics ◽  
Self Image ◽  
Pubertal Delay ◽  
Constitutional Delay ◽  
Sexual Characteristics ◽  
Age Appropriate

Despite considerable variation in the age at which puberty normally begins, a male adolescent who has demonstrated neither testicular nor pubic hair growth by 14 years of age is considered to have delayed puberty. Although such delay may indicate hypopituitarism or isolated gonadotropin deficiency, most commonly it represents a normal variation, termed "constitutional delay in growth and maturation." Such patients eventually will enter puberty and achieve normal sexual maturation and adult height. However, during adolescence, such delays may be accompanied by impaired self-image and social isolation. Under these conditions, many pediatric endocrinologists advocate short-term use of anabolic steroids. Such therapy is aimed at accelerating height velocity during the ensuing year, accompanied by the development of age-appropriate secondary sexual characteristics.

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

Growth failure in adolescents: etiology, the role of pubertal timing and most useful criteria for diagnostic workup

2016 ◽  
Vol 29 (4) ◽  
Author(s):  
Susanne E. Stalman ◽  
Ilse Hellinga ◽  
Jan M. Wit ◽  
Raoul C.M. Hennekam ◽  
Gerdine A. Kamp ◽  
...  
Keyword(s):  
Pubertal Timing ◽  
Diagnostic Testing ◽  
Growth Failure ◽  
Tanner Stage ◽  
Diagnostic Workup ◽  
Growth Monitoring ◽  
Diagnostic Protocol ◽  
Pubertal Delay ◽  
Constitutional Delay

AbstractThe aim of the study was to evaluate the etiology, the role of pubertal timing and most useful criteria for diagnostic workup in adolescents with growth failure.Adolescents (n=182) aged 10.0–18.0 years underwent a standardized diagnostic protocol. Constitutional delay of growth and puberty (CDGP) was defined as late pubertal onset or a Tanner stage less than –2 SDS. Dutch and Finnish criteria for growth monitoring were retrospectively assessed.In 13 children (7.1%) a specific diagnosis could be established. CDGP was diagnosed in 10% of patients aged ≥13 (girls) or ≥14 years (boys). Sensitivity to detect pathologic causes was 85% and 62% for, respectively Dutch and Finnish criteria for growth monitoring as used in younger children, but specificity was low (55%–59%).In adolescents, pathological causes for growth failure and pubertal delay are common, and we recommend a combination of height SDS, distance to THSDS and growth deflection for deciding on further diagnostic testing.

scholarly journals Acid-Labile Subunit Deficiency and Growth Failure: Description of Two Novel Cases

2010 ◽  
Vol 73 (5) ◽  
pp. 328-334 ◽  
Author(s):  
A. David ◽  
S.J. Rose ◽  
F. Miraki-Moud ◽  
L.A. Metherell ◽  
M.O. Savage ◽  
...  
Keyword(s):  
Growth Failure ◽  
Acid Labile Subunit ◽  
Acid Labile

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

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