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Fulltext Delayed Puberty and Anosmia in CHARGE Syndrome: A Case Report

Lee YL, Toh L, Yap F

J ASEAN Fed Endocr Soc, 2020;35(1):122-124.
PMID: 33442180 DOI: 10.15605/jafes.035.01.21

A 26-year-old female presented to the paediatric clinic at 11 years of age with poor growth. The detection of delayed puberty, anosmia, coloboma and hearing impairment led to a diagnosis of CHARGE syndrome. This was confirmed by a heterogenous de novo pathogenic variant c.6955C >T:p.(Arg2319Cys) detected in the CHD7 gene. Detailed assessment, including olfaction, ophthalmic and auditory examination should be part of the evaluation framework in children with delayed growth and puberty.

Matched MeSH terms: Puberty; Puberty, Delayed
Fulltext Gonadotropin-releasing hormone stimulation test and diagnostic cutoff in precocious puberty: a mini review

Ab Rahim SN, Omar J, Tuan Ismail TS

Ann Pediatr Endocrinol Metab, 2020 Sep;25(3):152-155.
PMID: 32871650 DOI: 10.6065/apem.2040004.002

The gonadotropin-releasing hormone (GnRH) stimulation test is a valuable tool in diagnosing and differentiating causes of early pubertal occurrences. Utility of the test can be limited in some instances, however, including the early phases of pubertal hypothalamic-pituitary-gonadal axis activation, in girls showing commonly overlapping pictures, and in obese children due to excess circulating estrogen that suppresses luteinizing hormone (LH). A lack of consistent baseline and stimulated gonadotropin cutoffs observed in different studies also contributes to limitations in testing. Nevertheless, early detection of true pathological causes for pubertal disorders is needed to allow prompt treatment and better prognosis. While basal LH can be beneficial as a good screening tool for detecting pubertal disorder, it does not preclude the need for GnRH testing. The aim of this review was to highlight the role of GnRH stimulation tests and varying testing cutoffs in diagnosis of precocious puberty and its classification.

Matched MeSH terms: Puberty, Precocious
Tooth mineralization stages as a diagnostic tool for assessment of skeletal maturity

Surendran S, Thomas E

Am J Orthod Dentofacial Orthop, 2014 Jan;145(1):7-14.
PMID: 24373650 DOI: 10.1016/j.ajodo.2013.09.007

The objective of this study was to determine whether dental calcification can be used as a first-level diagnostic tool for assessment of skeletal maturity.

Matched MeSH terms: Puberty/physiology
Taboo and Malay tradition

Teoh JI

Aust N Z J Psychiatry, 1976 Mar;10(1A):105-10.
PMID: 1065321

According to Malinowski there are no peoples, however primitive, without religion and magic; nor are there any societies lacking either in the scientific attitude or in science (Blumberg 1963). Magic and taboo are resorted to when through the normal use of science, or rational techniques, man is unable to control unpredictable events important to him. Where there is difficulty in predicting the outcome of behaviour, where the results of action are not consonant with effort, where there are great limitions on man's knowledge of vital issues, magical techniques are employed--in short, where circumstances of life are uncertain, uncontrolled and unknown. Magic and animism are systems of thought which give not only the explanation of a single phenomenon, but make it possible to comprehend the totality of the world from one point, as a continuity. Of the three systems of thought--animistic, religious and scientific--animism is perhaps the most consistent and the most exhaustive, the one which explains the world in its entirety.

Matched MeSH terms: Puberty
Familial lichen amyloidosis. Report of 19 cases in 4 generations of a Chinese family in Malaysia

Rajagopalan K, Tay CH

Br J Dermatol, 1972 Aug;87(2):123-9.
PMID: 5057380 DOI: 10.1111/j.1365-2133.1972.tb16186.x
Matched MeSH terms: Puberty
Fulltext Urinary Sex Steroids and Anthropometric Markers of Puberty - A Novel Approach to Characterising Within-Person Changes of Puberty Hormones

Singh GK, Balzer BW, Kelly PJ, Paxton K, Hawke CI, Handelsman DJ, et al.

PLoS One, 2015;10(11):e0143555.
PMID: 26599397 DOI: 10.1371/journal.pone.0143555

The longitudinal relationships of within-individual hormone and anthropometric changes during puberty have not ever been fully described. The objectives of this study were to demonstrate that 3 monthly urine collection was feasible in young adolescents and to utilise liquid chromatography-tandem mass spectrometry assay methods for serum and urine testosterone (T), estradiol (E2) and luteinizing hormone (LH) in adolescents by relating temporal changes in urine and serum hormones over 12 months to standard measures of pubertal development.

Matched MeSH terms: Puberty/urine*
Fulltext The physiology of leptin: revisited

Singh, Harbindar Jeet

Medical Health Reviews, 2009;2009(1):95-133.
MyJurnal

Leptin, a 167 amino-acid product of the ob or LEP gene, was first reported in 1994 after a 40-year search that began following the emergence of a mutant strain of mice with hyperphagia, early on-set obesity, and delayed sexual maturation. Since then, leptin deficiency has also been reported in the rat, and more recently in humans. It is secreted constitutively primarily by the white adipose tissue, and in smaller quantities by a number of non-adipose tissues. It acts by binding to specific membrane bound leptin receptors, belonging to the class 1 cytokine receptor family, and activating the JAK-STAT system. Leptin regulates appetite and body weight mainly through its actions on the hypothalamus involving the NPYmelanocortin pathway, and, to a lesser extent, through increased energy expenditure by way of sympathoactivation and increased substrate cycling. Its effects on reproduction, puberty in particular, are mediated through actions on the hypothalamic-pituitary-gonadal axis and on the gonads. Leptin also appears to have permissive roles in CNS development during the neonatal period, bone growth and development, and in haemopoietic and immune functions. Although it was its deficiency state that first led to its discovery, it now appears that the clinical significance of leptin lies not only in the consequences of its deficiency but also when it is in excess as occurs in obesity. Emerging evidence is implicating leptin as a link between obesity associated cardiovascular disease risks and infertility. Besides this, leptin is also being implicated as a growth factor in cancer. The story that started with a search for a body weight regulating factor is now unfolding into one that is revealing roles for leptin that stretch beyond the regulation of appetite and body weight.

Matched MeSH terms: Puberty
New Zealand Malayan war veterans' exposure to dibutylphthalate is associated with an increased incidence of cryptorchidism, hypospadias and breast cancer in their children

Carran M, Shaw IC

N Z Med J, 2012;125(1358):52-63.
PMID: 22864157

It is well known that the endocrine-disrupting chemical (EDC) dibutylphthalate (DBP) inhibits testosterone synthesis and can lead to feminisation in male laboratory animals. Moreover, it has long been speculated that human exposure would result in the similar effects, but this is difficult to study because specific human exposure cohorts are rare. We report increases in the incidences of hypospadias (p<0.05), cryptorchidism (p<0.05) and breast cancer (p<0.05) in the children of New Zealand soldiers who served in Malaya (1948-1960) and were exposed to DBP applied daily to their clothing as an acaricide to prevent tick-transmitted bush typhus. In addition, we modelled absorption of DBP from the soldiers' clothing and using published data for skin absorption, and calculated a large theoretical absorbed dose of 64 mg/kg body weight/day which is similar to DBP's lowest observed adverse effect level (LOAEL) of 50 mg/kg body weight/day and thus indicates a biological effect is possible. This is the first report of a multigenerational developmental effect following DBP exposure in human males.

Matched MeSH terms: Puberty, Precocious/etiology; Puberty, Precocious/epidemiology
Effect of pubertal developmental stages and lower limb kinetics during vertical jump task in Sepak Takraw sport

Leonard Joseph H, Roslizawati N, Safrusahar MY, Efri NM, Das S, Baharudin O, et al.

Clin Ter, 2009;160(5):403-7.
PMID: 19997687

Sepak Takraw is a sport which actively involves the lower limb. A cross sectional study was performed to investigate the lower limb kinetics (ground reaction force, flight time and contact time) involved during the vertical jumping and landing task between the early pubertal and late pubertal stages in National level Sepak Takraw athletes in Malaysia. Twenty athletes (8 pre pubertal and 12 late pubertal) with no previous history of any physical injuries were taken for the study. The kinetics data of the vertical jump task was calculated using a force platform 3-AMTI Biomechanics Force Platform. The Silicon ProCoach (Chart 5 software) was used to collect the ground reaction force signals, flight time and contact time. The results showed a non-significant decrease in peak ground reaction force in the post pubertal group as compared to the pre pubertal group (t(18)=0.659, p=0.518,CI(95)(-2.54, 4.86). Comparison of flight time between the two age groups showed a significant increase in the post pubertal group with mean and SD (0.7773 + or - 0.03) as compared to the pre pubertal group mean and SD (0.7296 + or - 0.05), which was statistically considered significant (p<0.05) (t(18)=-2.401, p<0.05,CI(95)(-0.089, -0.005). The findings from this study demonstrated that the flight time of the vertical jump task differed between the pre and post pubertal athletes with the post pubertal group having an improved ability in maintaining longer duration of flight phase.

Matched MeSH terms: Puberty/physiology*
Fulltext Can Brain Natriuretic Peptides and Osteoprotegerin Serve As Biochemical Markers for the Detection of Aortic Pathology in Children and Adolescents with Turner Syndrome?

Mavinkurve M, O'Gorman CS

Front Endocrinol (Lausanne), 2017;8:142.
PMID: 28725213 DOI: 10.3389/fendo.2017.00142

Turner syndrome (TS) is a chromosomal disorder that affects 1:2,000 females. It results from either the complete or partial loss of the X chromosome as well as other aberrations. Clinical features of TS include short stature, delayed puberty, and congenital cardiac malformations. TS children also have an increased prevalence of cardiometabolic risk factors, which predisposes them to complications like coronary artery disease, cerebrovascular-related deaths, and aortic dissection. Early cardiac imaging, such as echocardiography and cardiac magnetic resonance imaging, are recommended to detect underlying aortic pathology. However, these modalities are limited by cost, accessibility, and are operator dependent. In view of these shortcomings, alternative methods, like vascular biomarkers, are currently being explored. There are only a few studies that have examined the relationship between B-type natriuretic peptide (BNP), N-terminal pro BNP (NT pro-BNP), and osteoprotegerin (OPG) and aortic disease in TS, and thus the data are only in proof-of-concept stages. Further meticulous longitudinal studies are required before BNP, NT pro-BNP, and OPG are used as vascular biomarkers for the detection of aortic disease in childhood and adolescent TS.

Matched MeSH terms: Puberty, Delayed
Fulltext Glycogenic hepatopathy in children with poorly controlled type 1 diabetes mellitus

Abu NA, Lim CB, Nor NSM

Clin Pediatr Endocrinol, 2021;30(2):93-97.
PMID: 33867669 DOI: 10.1297/cpe.30.93

Mauriac syndrome is a rare and underdiagnosed complication of type 1 diabetes mellitus (T1DM). It is characterized by growth retardation, delayed puberty, Cushingoid features, hepatomegaly, and increased transaminase levels. The term glycogenic hepatopathy has been used to describe patients with poorly controlled T1DM and glycogen overload in the hepatocytes but without all the features of Mauriac syndrome. Although rare, glycogenic hepatopathy is reported to be the main cause of hepatomegaly in young patients with T1DM. We report two cases of glycogenic hepatopathy in children with poorly controlled T1DM. Both children had hepatomegaly, elevated liver enzyme levels, and elevated lactate levels. A liver biopsy confirmed the diagnosis of glycogenic hepatopathy in both patients. In conclusion, hepatomegaly with elevated liver enzymes, negative infective and metabolic screenings and persistently elevated plasma lactate levels should raise the suspicion of glycogenic hepatopathy in poorly controlled T1DM. Early diagnosis and improvement in glycemic control are the mainstays of treatment, which can prevent long-term complications.

Matched MeSH terms: Puberty, Delayed
Thyroid function and pubertal development in malnutrition

Ali O, Tan TT, Sakinah O, Khalid BA, Wu LL, Wan Nazaimoon WM, et al.

Ann Acad Med Singap, 1994 Nov;23(6):852-5.
PMID: 7741498

Thyroid function and pubertal development of aborigines (Orang Asli) and Malays at different socioeconomic strata were assessed among 1136 subjects aged 7 years and above. Anthropometric measurements, goitre and pubertal staging were done. Serum thyroxine (T4), triiodothyronine (T3) and growth hormone were measured using radioimmunoassays (RIA) and serum thyroid stimulating hormone (TSH) by immunoradiometric assays (IRMA). It was found that serum T3 in children was significantly higher in Malays from rural areas, girls and children aged less than 13 years. However, in adults, T3 was significantly associated with anthropometric indices. On the contrary, serum T4 levels were higher among children from urban areas. In adults, serum T4 levels were significantly related to nutritional status and they increased according to the levels of social development, being lowest in remote areas and highest in urban areas. However, serum TSH levels were significantly higher in Orang Asli at all ages and among malnourished children. By using multiple regression, apart from age, gender and ethnicity, nutritional status was a significant predictor for T3 levels in children and adults. Presence of goitre was an important factor which determined the T4 levels in children and adults after controlling for other factors. It was also a predictor for TSH levels in children but not in adults. Fasting serum growth hormone (GH) levels were significantly higher among less privileged groups and decreased according to social development. Serum growth hormone was negatively correlated with anthropometric indices and had a significant association with malnutrition.(ABSTRACT TRUNCATED AT 250 WORDS)

Matched MeSH terms: Puberty/ethnology; Puberty/physiology*
Low lying larynx

Govindaraju R, Rajagopalan R, Omar R, Mukari SA

Congenit Anom (Kyoto), 2010 Sep;50(3):193-6.
PMID: 20507348 DOI: 10.1111/j.1741-4520.2010.00280.x

We report a rare case of laryngotracheal anomaly and its possible etiology and mode of presentation. A teenager presented with voice change and a neck lump. Investigations revealed a laryngeal anomaly in which the larynx was hyperdescended. It was accompanied by low lying thyroid gland and hyoid bone together with an absence of a cervical segment of the esophagus and trachea. The anomaly only became noticeable secondary to pubertal changes in the thyroid cartilage of the teenager. An embryological defect during the formation of the laryngotracheal tube and esophagus is a possible explanation of this anomaly. The present case probably represents the third reported of its kind.

Matched MeSH terms: Puberty
Fulltext Intermittent Suprasternal Neck Mass Caused by Herniation of Ectopic Thymus: Report of Two Cases

Tey KJ, Goh BS, Mohd-Zaki F

Iran J Otorhinolaryngol, 2020 Nov;32(113):391-395.
PMID: 33282788 DOI: 10.22038/ijorl.2020.45727.2501

Introduction: Ectopic thymus is an uncommon cause of neck masses in children that frequently present as lateral cervical swelling especially on the right side.
Case Report: We report two cases with atypical clinical presentation of ectopic thymus and superior herniation of normal thymus. Both of the patients manifested as intermittent midline mass at the suprasternal region during Valsalva manuevre. Unique ultrasound features with the location along the thymic descent together with dynamic assessment of the organ movement were essential to reach the correct diagnosis. Conservative approach was considered in these patients considering the necessity of thymus in the process of puberty.
Conclusion: High index of suspicion is of utmost importance when encounter patient with similar clinical manifestation to avoid unnecessary diagnostic modalities and surgeries. Accurate diagnosis will also alleviate parents' anxiety.

Matched MeSH terms: Puberty
Fulltext School-based intervention to prevent overweight and disordered eating in secondary school Malaysian adolescents: a study protocol

Sharif Ishak SI, Chin YS, Mohd Taib MN, Mohd Shariff Z

BMC Public Health, 2016 10 20;16(1):1101.
PMID: 27765023

BACKGROUND: Obesity, eating disorders and unhealthy weight-loss practices have been associated with diminished growth in adolescents worldwide. Interventions that address relevant behavioural dimensions have been lacking in Malaysia. This paper describes the protocol of an integrated health education intervention namely 'Eat Right, Be Positive About Your Body and Live Actively' (EPaL), a primary prevention which aimed to promote healthy lifestyle in preventing overweight and disordered eating among secondary school adolescents aged 13-14 years old.

METHODS/DESIGN: Following quasi-experimental design, the intervention is conducted in two secondary schools located in the district of Hulu Langat, Selangor, Malaysia. Adolescents aged 13-14 years will be included in the study. A peer-education strategy is adopted to convey knowledge and teach skills relevant to achieving a healthy lifestyle. The intervention mainly promoted: healthy eating, positive body image and active lifestyle. The following parameters will be assessed: body weight, disordered eating status, stages of change (for healthy diet, breakfast, food portion size, screen viewing and physical activity), body image, health-related quality of life, self-esteem, eating and physical activity behaviours; and knowledge, attitude and practice towards a healthy lifestyle. Assessment will be conducted at three time points: baseline, post-intervention and 3-month follow-up.

DISCUSSION: It is hypothesized that EPaL intervention will contribute in preventing overweight and disordered eating by giving the positive effects on body weight status, healthy lifestyle behaviour, as well as health-related quality of life of peer educators and participants. It may serve as a model for similar future interventions designed for the Malaysian community, specifically adolescents.

TRIAL REGISTRATION: UMIN Clinical Trial Registration UMIN000024349 (Date of registration: 11th. October 2016, retrospectively registered).

Matched MeSH terms: Puberty/psychology
Fulltext Comparison of the Clinical and Biochemical Profile of Metabolic Syndrome Between Obese Children Below and Above 10-Years Old Attending Paediatric Clinic Hospital Universiti Sains Malaysia from 2006 to 2015

Hussain S, Men KK, Majid NA

J ASEAN Fed Endocr Soc, 2017;32(2):132-138.
PMID: 33442096 DOI: 10.15605/jafes.032.02.06

Objectives: We aim to compare the clinical and biochemical profile of metabolic syndrome between obese children below and above 10 years attending Paediatric clinic Hospital Universiti Sains Malaysia (HUSM) from 2006 to 2015. This is to determine if age, particularly the transition to puberty, modifies the prevalence of components of metabolic syndrome in obese children.
Methodology: The medical records of 84 obese children under 18 years of age seen at Paediatric clinic HUSM from 2006 to 2015 were reviewed. Demographic (age, gender, ethnicity), anthropometric (weight and height), clinical [body mass index (BMI), systolic blood pressure (SBP) and diastolic blood pressure (DBP)] and biochemical [serum total cholesterol (TC), triglyceride (TG), high density lipoprotein-cholesterol (HDL-C), low density lipoprotein-cholesterol (LDL-C), fasting plasma glucose (FPG)] parameters were recorded, analyzed and compared.
Results: Majority of subjects in both age groups were boys, with 68.2% <10 years old. Mean age was 9.69 years (±3.36). The clinical and biochemical parameters of metabolic syndrome were similar between those <10 years old and >10 years, with the exception of BMI, waist circumference, SBP and TG level. Multivariate regression analysis showed that the parameters of metabolic syndrome significantly associated with age ≥10 years were systolic hypertension (adjusted OR 7.17, 95% CI, 1.48 to 34.8) and BMI >30 kg/m2 (adjusted OR 3.02, 95% CI, 1.16 to 7.86).
Conclusion: There were similar clinical and biochemical parameters of metabolic syndrome in both age groups. The proportions of children with metabolic syndrome were similar regardless of age group. The overall prevalence rate of metabolic syndrome was 27.3%. In view of the alarming presence of components of metabolic syndrome even in children less than 10 years of age, efforts aimed at the prevention of childhood obesity in the community should be intensified.

Matched MeSH terms: Puberty
Survey of sickness in Singapore with notes on births, deaths, handicapped persons, puberty, menopause, immunisation, incidence of cough and adoption

LLOYD DAVIES TA, MILLS R

Med J Malaya, 1961 Mar;15:117-56.
PMID: 14466048
Matched MeSH terms: Puberty*
Measurement of androstenedione levels by an in-house radioimmunoassay

Lo MS, Ng ML, Wu LL, Khalid BA

Malays J Pathol, 1996 Jun;18(1):53-8.
PMID: 10879225

An in-house radioimmunoassay (RIA) for the measurement of androstenedione levels in serum was established and validated. Levels of androstenedione were measured by RIA using serum samples from various normal population groups and patients with congenital adrenal hyperplasia (CAH). Analytical recovery and linearity results were > 95%, while intra- and inter-assay CVs were < 10% and < 22% respectively. The assay sensitivity was 0.5 nmol/l or 25 fmol/tube. In normal population groups, the highest androstenedione levels were found in preterm neonates (1.6-12.4 nmol/l), followed by adult females (1.5-10.2 nmol/l), adult males (1.6-8.0 nmol/l) and term neonates (0.8-8.8 nmol/l), while the lowest values were observed in prepubertal children (0.5-3.4 nmol/l). There were no significant differences in diurnal variation and between follicular and luteal phases. The range of androstenedione levels in untreated or poorly controlled CAH patients (7.6-355.0 nmol/l, median 42.5 nmol/l, n = 20) were significantly higher (p < 0.001) than the upper normal limit of 3.4 nmol/L for prepubertal children. The normal androstenedione reference ranges for paediatric and adult groups have thus been established.

Matched MeSH terms: Puberty/blood
Diagnostic pitfalls in the evaluation and management of amenorrhea in adolescents

Azurah AG, Zainuddin AA, Jayasinghe Y

J Reprod Med, 2013 Jul-Aug;58(7-8):324-36.
PMID: 23947083

Amenorrhea is a common menstrual problem seen in adolescents. Amenorrhea has been shown to have a negative impact on adolescents' quality of life. In this paper we discuss the various causes and investigations of amenorrhea in adolescents and address management dilemmas for specific conditions. Specific approaches in dealing with adolescents using the HEADSS (Home, Education, Activity, Drugs, Sexual activity, Suicidal) approach are discussed.

Matched MeSH terms: Puberty
Resting metabolic rate in a sample of girls in Malaysia and England

Henry CJ, Webster-Gandy JD, Koon PB, Ismail MN

Am J Hum Biol, 2005 Nov-Dec;17(6):818-20.
PMID: 16254909

This cross-sectional study of age matched (10-11 years), pre-menarcheal girls in England and Malaysia investigated the effect of ethnicity on resting metabolic rate (RMR). The children were recruited from schools in Oxford, England, and Kuala Lumpur, Malaysia, and all measurements were conducted in the schools. The Malaysian girls were shorter (143.7 +/- 6.5 cm and 140.1 +/- 5.3 cm (mean +/- SD) for the English and Malaysian girls respectively) and lighter (32.5 +/- 5.3 kg compared with 38.0 +/- 8.7 kg for the English girls) with a smaller fat mass and fat free mass (FFM) than the English girls. Energy expenditure was lower in the Malaysian girls (4555 +/- 531 kJ/day compared with 5178 +/- 688 kJ/day for the English girls). Although a difference in RMR was observed between the two groups, when corrected for body composition the difference was no longer significant. No effect of ethnicity on the relationship of FFM and RMR was shown when the data were analyzed using analysis of covariance.

Matched MeSH terms: Puberty/physiology

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