scholarly journals Genetics of Pubertal Delay

2021 ◽  
Author(s):  
Tansit Saengkaew ◽  
Sasha R Howard
Keyword(s):  
Pubertal Delay

scholarly journals Malnutrition in Inflammatory Bowel Diseases. What do we know today?

2021 ◽  
pp. 1-3
Author(s):  
Christina N.  Katsagoni
Keyword(s):  
Disease Control ◽  
Inflammatory Bowel Diseases ◽  
Bone Development ◽  
Treatment Modalities ◽  
Growth Delay ◽  
Refeeding Syndrome ◽  
Exclusive Enteral Nutrition ◽  
Pubertal Delay ◽  
Bowel Diseases ◽  
Inflammatory Bowel

Growth delay with height and weight impairment is a common feature of pediatric inflammatory bowel diseases (PIBD). Up to 2/3 of Crohn Disease patients have impaired weight at diagnosis, and up to 1/3 have impaired height. Ulcerative colitis usually manifests earlier with less impaired growth, though patients can be affected. Ultimately, growth delay, if not corrected, can reduce final adult height. Weight loss, reduced bone mass, and pubertal delay are also concerns associated with growth delay in newly diagnosed PIBD patients. The mechanisms for growth delay in IBD are multifactorial and include reduced nutrient intake, poor absorption, increased fecal losses, as well as direct effects from inflammation and treatment modalities. Management of growth delay requires optimal disease control. Exclusive enteral nutrition (EEN), biologic therapy, and corticosteroids are the primary induction strategies used in PIBD, and both EEN and biologics positively impact growth and bone development. Beyond adequate disease control, growth delay and pubertal delay require a multidisciplinary approach, dependent on diligent monitoring and identification, nutritional rehabilitation, and involvement of endocrinology and psychiatry services as needed. Pitfalls that clinicians may encounter when managing growth delay include refeeding syndrome, obesity (even in the setting of malnutrition), and restrictive diets. Although treatment of PIBD has improved substantially in the last several decades with the era of biologic therapies and EEN, there is still much to be learned about growth delay in PIBD in order to improve outcomes.

scholarly journals Physical stress may result in growth suppression and pubertal delay in working boys

2012 ◽  
Vol 6 (1) ◽  
pp. 35-39 ◽  
Author(s):  
Muhammad Irfan ◽  
Ghazala Kaukab Raja ◽  
Shahnaz Murtaza ◽  
Rubina Mansoor ◽  
Mazhar Qayyum ◽  
...  
Keyword(s):  
Growth Suppression ◽  
Physical Stress ◽  
Pubertal Delay

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

scholarly journals OR11-01 Using Kisspeptin to Predict Pubertal Outcomes for Youth With Pubertal Delay

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Yee-Ming Chan ◽  
Margaret Flynn Lippincott ◽  
Priscila Sales Barroso ◽  
Cielo Alleyn ◽  
Jill Brodsky ◽  
...  
Keyword(s):  
Inhibin B ◽  
Stimulation Test ◽  
Delayed Puberty ◽  
Laboratory Studies ◽  
Pubertal Delay ◽  
Gnrh Release ◽  
Reproductive Endocrine ◽  
Physical Examinations ◽  
Outcomes For Children ◽  
Endocrine Axis

Abstract Background: The management of youth presenting with delayed puberty is challenging because it can be difficult to predict which children will eventually progress through puberty and which children will not. We have previously shown that exogenous administration of the neuropeptide kisspeptin, which stimulates GnRH release, can be used to probe the integrity of the reproductive endocrine axis. We hypothesized that responses to kisspeptin could predict outcomes for individuals with pubertal delay. Methods: We conducted a longitudinal study of 16 children (3 girls and 13 boys) with delayed or stalled puberty who had undergone stimulation testing with kisspeptin and GnRH. Participants were followed with serial physical examinations and laboratory studies every six months for evidence of progression through puberty. Inhibin B was measured in boys. A subset of participants underwent exome sequencing. Results: “Kisspeptin responders” who had responded to kisspeptin with a rise in LH of 0.8 mIU/mL or greater all subsequently progressed through puberty (n = 8). In contrast, “kisspeptin nonresponders” who had exhibited LH responses to kisspeptin ≤0.4 mIU/mL all reached age 18 years without developing physical signs of puberty (n = 8). Thus, responses to kisspeptin accurately predicted later pubertal outcomes (p = 0.0002), with sensitivity and specificity of 100% (95% CI 74-100%). Moreover, the kisspeptin-stimulation test outperformed overnight LH measurements, GnRH-stimulated LH, inhibin B, and genetic testing in predicting pubertal outcomes. Conclusion: The kisspeptin-stimulation test can be used to reveal future reproductive endocrine potential in prepubertal children and is a promising novel tool for predicting pubertal outcomes for children with delayed puberty. Trial registration: ClinicalTrials.gov NCT01438034

scholarly journals Blue Rubber Bleb Nevus Syndrome: A Possible Cause for Growth Retardation and Pubertal Delay

2018 ◽  
Vol 28 (3) ◽  
pp. 294-296
Author(s):  
Yi Pan ◽  
Lu Zhang ◽  
Minghui Duan ◽  
Hong Yang ◽  
Duoduo Zhao ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Iron Deficiency ◽  
Growth Retardation ◽  
Rare Case ◽  
Clinical Presentation ◽  
Intravenous Iron ◽  
Deficiency Anemia ◽  
Pubertal Delay ◽  
Intravenous Iron Therapy ◽  
Possible Cause

Objective: The aim of this paper was to describe a rare case of blue rubber bleb nevus (BRBNS) with growth retardation and pubertal delay. Clinical Presentation and Intervention: A 16-year-old boy with severe iron deficiency anemia was diagnosed with BRBNS, showing growth retardation and pubertal delay simultaneously. The patient was treated conservatively with intravenous iron therapy, and his puberty advanced gradually. Conclusion: Given that growth retardation and pubertal delay are rare in BRBNS patients, this case reminds us to include BRBNS in the differential diagnosis of growth retardation.

Nutrition in Children with Kidney Disease: Pitfalls of Popular Assessment Methods

2005 ◽  
Vol 25 (3_suppl) ◽  
pp. 143-146 ◽  
Author(s):  
Bethany J. Foster ◽  
Mary B. Leonard
Keyword(s):  
Body Composition ◽  
High Risk ◽  
Kidney Disease ◽  
Nutritional Status ◽  
Nutritional Assessment ◽  
Fluid Overload ◽  
Protein Energy Malnutrition ◽  
Protein Energy ◽  
Accurate Picture ◽  
Pubertal Delay

Children with chronic kidney disease (CKD) are considered at high risk for protein-energy malnutrition. Clinical practice guidelines generally recommend an evaluation of numerous nutritional parameters to give a complete and accurate picture of nutritional status. This review summarizes the potential limitations of commonly used methods of nutritional assessment in the setting of CKD. Unrecognized fluid overload and inappropriate normalization of body composition measures are the most important factors leading to misinterpretation of the nutritional assessment in CKD. The importance of expressing body composition measures relative to height or height-age in a population in whom short stature and pubertal delay are highly prevalent is emphasized. The limitations of growth as a marker for nutritional status are also addressed. In addition, the prevailing belief that children with CKD are at high risk for malnutrition is challenged.

Basal Ultrasensitive LH Assay: A Useful Tool in the Early Diagnosis of Male Pubertal Delay?

2002 ◽  
Vol 15 (5) ◽  
Author(s):  
A.M. Sequera ◽  
H.L. Fideleff ◽  
H.R. Boquete ◽  
A.B. Pujol ◽  
M.G. Suárez ◽  
...  
Keyword(s):  
Early Diagnosis ◽  
Pubertal Delay

Testosterone therapy in patients with Duchenne muscular dystrophy and glucocorticoid-induced pubertal delay

2017 ◽  
Vol 27 ◽  
pp. S102-S103
Author(s):  
C. Keefe ◽  
B. Wong ◽  
I. Rybalsky ◽  
K. Shellenbarger ◽  
C. Tian ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Testosterone Therapy ◽  
Pubertal Delay

Pubertal delay as an aid in diagnosis and treatment of a transsexual adolescent

1998 ◽  
Vol 7 (4) ◽  
pp. 246-248 ◽  
Author(s):  
P. T. Cohen-Kettenis ◽  
S. H. M. van Goozen
Keyword(s):  
Diagnosis And Treatment ◽  
Pubertal Delay

scholarly journals A vital region for human glycoprotein hormone trafficking revealed by an LHB mutation

2016 ◽  
Vol 231 (3) ◽  
pp. 197-207 ◽  
Author(s):  
Iulia Potorac ◽  
Adolfo Rivero-Müller ◽  
Ashutosh Trehan ◽  
Michał Kiełbus ◽  
Krzysztof Jozwiak ◽  
...  
Keyword(s):  
Luteinizing Hormone ◽  
Pubertal Development ◽  
Gene Mutations ◽  
Thyroid Stimulating Hormone ◽  
Beta Subunits ◽  
Glycoprotein Hormones ◽  
Glycoprotein Hormone ◽  
Pubertal Delay ◽  
The Common ◽  
Stimulating Hormone

Glycoprotein hormones are complex hormonally active macromolecules. Luteinizing hormone (LH) is essential for the postnatal development and maturation of the male gonad. Inactivating Luteinizing hormone beta (LHB) gene mutations are exceptionally rare and lead to hypogonadism that is particularly severe in males. We describe a family with selective LH deficiency and hypogonadism in two brothers. DNA sequencing of LHB was performed and the effects of genetic variants on hormone function and secretion were characterized by mutagenesis studies, confocal microscopy and functional assays. A 20-year-old male from a consanguineous family had pubertal delay, hypogonadism and undetectable LH. A homozygous c.118_120del (p.Lys40del) mutation was identified in the patient and his brother, who subsequently had the same phenotype. Treatment with hCG led to pubertal development, increased circulating testosterone and spermatogenesis. Experiments in HeLa cells revealed that the mutant LH is retained intracellularly and showed diffuse cytoplasmic distribution. The mutated LHB heterodimerizes with the common alpha-subunit and can activate its receptor. Deletion of flanking glutamic acid residues at positions 39 and 41 impair LH to a similar extent as deletion of Lys40. This region is functionally important across all heterodimeric glycoprotein hormones, because deletion of the corresponding residues in hCG, follicle-stimulating hormone and thyroid-stimulating hormone beta-subunits also led to intracellular hormone retention. This novel LHB mutation results in hypogonadism due to intracellular sequestration of the hormone and reveals a discrete region in the protein that is crucial for normal secretion of all human glycoprotein hormones.

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