scholarly journals Etiology of Increased Referrals for Evaluation of Early Puberty in a Tertiary Care Center in Turkey: True Precocious Puberty, Obesity, or Parental Anxiety and Lack of Knowledge?

2021 ◽  
Vol 8 ◽  
pp. 2333794X2110090
Author(s):  
Ayse Pinar Cemeroglu ◽  
Damlanur Kaval ◽  
Ozan Ozcan
Keyword(s):  
Precocious Puberty ◽  
Care Center ◽  
Pubertal Development ◽  
Tertiary Care ◽  
Parental Anxiety ◽  
Adrenal Hyperplasia ◽  
Pediatric Endocrinology ◽  
Early Puberty ◽  
Classic Congenital Adrenal Hyperplasia ◽  
Timing Of Puberty

There has been a global increase in pediatric endocrinology referrals for the concerns of early puberty. The objective of this study was to determine the reasons behind this increase. A retrospective cross-sectional study was designed to analyze the clinical characteristics of patients seen for the concerns of early puberty in pediatric endocrinology clinic of a tertiary care center (Study A). Additionally, a prospective questionnaire study was designed to assess the knowledge and concerns of the mothers regarding the timing of puberty in girls (Study B). In study A, of the 305 girls, 42.9% were overweight/obese, 68.5% either had normal pubertal development for age or were prepubertal, 1 had non-classic congenital adrenal hyperplasia, and 2 had central precocious puberty. Of the 36 boys, 56% were overweight/obese, 64% either had normal pubertal development for age or were prepubertal, and 1 had non-classic congenital adrenal hyperplasia. In study B, 95% of the participants thought the girls have been developing earlier, over 10% considered the first sign of puberty to be normal after the age 14 years and 12.4% considered menarche to be normal after age 14 years. The common sources of anxiety for the participants regarding the earlier timing of puberty were psychosocial issues and short final height. In conclusion, many parents had wrong beliefs/information about the normal timing of puberty and were concerned about precocious puberty in girls. Education of parents about the normal timing of puberty may help avoiding unnecessary referrals, parental anxiety, and financial burden to the society.

scholarly journals An infant with 49XXXXY syndrome: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
N. P. G. C. R. Naotunna ◽  
C. Liyanage ◽  
N. Atapattu
Keyword(s):  
Care Center ◽  
Tertiary Care ◽  
Chromosome Analysis ◽  
Dehydroepiandrosterone Sulfate ◽  
Ambiguous Genitalia ◽  
Normal Vaginal Delivery ◽  
Sri Lankan ◽  
Pediatric Endocrinology ◽  
First Child

Abstract Background 49XXXXY syndrome is the rarest X chromosome aneuploidy, with approximate incidence of 1:85,000–100,000 male births. Worldwide, around 100 cases have been reported. In this report, we describe one such case seen in Sri Lanka. Case presentation A 10-day-old Sri Lankan neonate born in a tertiary care center was referred to the pediatric endocrinology unit of Lady Ridgeway Hospital due to detection of ambiguous genitalia at birth. He was the first child born to nonconsanguineous healthy parents following an uncomplicated antenatal period. He was born at term via normal vaginal delivery, with a birth weight of 2.385 kg. The baby was active, and there was no documented hypoglycemia or alteration in basic biochemical investigations. On examination, the child had hypertelorism, upslanting palpebral fissures, flat occiput, and mild webbing of the neck. System examination was normal. Genitalia examination revealed bifid scrotum, perineal urethra, 2 cm phallus, and bilateral testis in situ. Hormonal analysis, including dehydroepiandrosterone sulfate, testosterone, and 17-OH progesterone levels, was normal except for an elevated level of follicle-stimulating hormone, indicating gonadal dysgenesis. Ultrasound of the abdomen detected testis located at bilateral inguinal canal, and no Müllerian structures were visible. Echocardiography showed a small patent foramen ovale with otherwise normal heart. Chromosome analysis revealed 49XXXXY syndrome. Conclusion 49XXXXY syndrome should be entertained as a rare possibility for ambiguous genitalia, and karyotyping is an essential investigation for evaluation of such patients.

Precocious Puberty

2006 ◽  
Vol 00 (02) ◽  
Author(s):  
Paul B Kaplowitz
Keyword(s):  
Precocious Puberty ◽  
Linear Growth ◽  
Pubertal Development ◽  
Black Girls ◽  
Pubic Hair ◽  
Growth Spurt ◽  
Tall Stature ◽  
Early Puberty ◽  
Bone Maturation ◽  
Early Appearance

Precocious puberty refers to the appearance of physical and hormonal signs of pubertal development at an earlier age than is considered normal.Although traditionally, any signs of puberty in girls prior to age eight years have been considered abnormal, recent studies indicate that signs of early puberty (breasts and pubic hair) are often present in girls (particularly black girls) between ages 6–8 years.The early growth spurt initially can cause tall stature, but rapid bone maturation can cause linear growth to cease too early and result in short adult stature.The early appearance of breasts or menses in girls and increased libido in boys can cause emotional distress for some children.

scholarly journals The Role of Pediatric Nutrition as a Modifiable Risk Factor for Precocious Puberty

Life ◽  
2021 ◽  
Vol 11 (12) ◽  
pp. 1353
Author(s):  
Valeria Calcaterra ◽  
Elvira Verduci ◽  
Vittoria Carlotta Magenes ◽  
Martina Chiara Pascuzzi ◽  
Virginia Rossi ◽  
...  
Keyword(s):  
Precocious Puberty ◽  
Pubertal Development ◽  
Protective Role ◽  
Positive Influence ◽  
Early Puberty ◽  
Future Health ◽  
Childhood Nutrition ◽  
Nutritional Recommendations ◽  
Complex Process

Puberty is a critical phase of growth and development characterized by a complex process regulated by the neuroendocrine system. Precocious puberty (PP) is defined as the appearance of physical and hormonal signs of pubertal development at an earlier age than is considered normal. The timing of puberty has important public health, clinical, and social implications. In fact, it is crucial in psychological and physical development and can impact future health. Nutritional status is considered as one of the most important factors modulating pubertal development. This narrative review presents an overview on the role of nutritional factors as determinants of the timing of sexual maturation, focusing on early-life and childhood nutrition. As reported, breast milk seems to have an important protective role against early puberty onset, mainly due to its positive influence on infant growth rate and childhood overweight prevention. The energy imbalance, macro/micronutrient food content, and dietary patterns may modulate the premature activation of the hypothalamic–pituitary–gonadal axis, inducing precocious activation of puberty. An increase in knowledge on the mechanism whereby nutrients may influence puberty will be useful in providing adequate nutritional recommendations to prevent PP and related complications.

scholarly journals Etiological factors of short stature in children and adolescents: experience at a tertiary care hospital in Egypt

2017 ◽  
Vol 8 (5) ◽  
pp. 75-80 ◽  
Author(s):  
Almontaser Hussein ◽  
Hekma Farghaly ◽  
Eman Askar ◽  
Kotb Metwalley ◽  
Khaled Saad ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Short Stature ◽  
Care Center ◽  
Tertiary Care ◽  
Hormone Deficiency ◽  
Growth Delay ◽  
Care Hospital ◽  
Pediatric Endocrinology ◽  
Etiological Factors ◽  
Detailed Medical History

Background: Accurate anthropometric measurements and critical analysis of growth data allow the clinician to promptly recognize children with short stature. The aim of this study was to determine the frequency of etiological factors causing short stature among children referred to the pediatric endocrinology clinic of Assiut University Children’s Hospital, the main tertiary care center in Upper Egypt. Methods: We conducted this descriptive observational study from May 2012 to December 2015, to analyze 637 children (boys 354, girls 283) with short stature. Evaluation included: detailed medical history, physical examination, laboratory tests, bone age and chromosomal analysis. Results: Endocrinological causes accounted for 26% of short stature [of them, 11.8% had growth hormone deficiency (GHD)], 63.6% had normal variants of growth [of them, 42% had familial short stature (FSS), 15.8% had constitutional growth delay (CGD) and 5.5% a combination of both]. Interestingly, celiac disease (CD) constituted 6.6% of children with short stature in our cohort. Conclusions: Although potentially treatable causes such as GHD, hypothyroidism and CD accounted for a considerable percentage of short stature in our study, the majority of short stature in children had normal variations of growth. Growth hormone treatment in children, however, should be promptly initiated with specific clinical indications. CD is a not uncommon cause of short stature.

Timing of puberty and synchronization of seasonal rhythms by simulated natural photoperiods in female Siberian hamsters

2007 ◽  
Vol 293 (1) ◽  
pp. R413-R420 ◽  
Author(s):  
Matthew P. Butler ◽  
Justin J. Trumbull ◽  
Kevin W. Turner ◽  
Irving Zucker
Keyword(s):  
Pubertal Development ◽  
Somatic Growth ◽  
Life History Trait ◽  
Delayed Puberty ◽  
Summer Solstice ◽  
Early Puberty ◽  
Seasonal Rhythms ◽  
Siberian Hamsters ◽  
Natural Photoperiod ◽  
Timing Of Puberty

The timing of puberty is a critical life history trait of short-lived species; spring-born individuals mature rapidly and breed in the season of birth, whereas young born in mid- to late summer delay puberty until the next spring. The cues that govern the transition from rapid to delayed maturation in natural populations remain unknown. To identify ecologically relevant photoperiod cues that control timing of puberty, we monitored nine cohorts of female Siberian hamsters ( Phodopus sungorus) born every 2 wk from 4 wk before to 12 wk after the summer solstice in a simulated natural photoperiod (SNP). Hamsters born by the summer solstice underwent rapid somatic growth and achieved puberty that summer; among females born 2–4 wk after the solstice, some delayed puberty by many weeks, whereas others manifested early puberty. Hamsters born 6 or more weeks after the solstice generally delayed puberty until the following spring. The transition from accelerated to delayed pubertal development in the SNP occurred at day lengths that induce early puberty when presented as static photoperiods. Despite differences in timing of birth and timing of puberty, fall and subsequent spring seasonal events occurred at similar calendar dates in all cohorts. We found no evidence that prenatal photoperiod history influenced postnatal development of female hamsters. Considered together with a parallel study on males, the present findings point to sex differences in responsiveness to natural photoperiod variations. In both sexes, incrementally changing photoperiods exert a strong organizing effect on seasonal rhythms.

scholarly journals Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility

2016 ◽  
Author(s):  
Felix R. Day ◽  
Deborah J. Thompson ◽  
Hannes Helgason ◽  
Daniel I. Chasman ◽  
Hilary Finucane ◽  
...  
Keyword(s):  
Rare Variants ◽  
Cancer Susceptibility ◽  
Pubertal Development ◽  
Genetic Regulation ◽  
Age At Menarche ◽  
Cancer Risks ◽  
Early Puberty ◽  
Opposite Pattern ◽  
Timing Of Puberty ◽  
Independent Effects

AbstractThe timing of puberty is a highly polygenic childhood trait that is epidemiologically associated with various adult diseases. Here, we analyse 1000-Genome reference panel imputed genotype data on up to ~370,000 women and identify 389 independent signals (all P<5×10−8) for age at menarche, a notable milestone in female pubertal development. In Icelandic data from deCODE, these signals explain ~7.4% of the population variance in age at menarche, corresponding to one quarter of the estimated heritability. We implicate over 250 genes via coding variation or associated gene expression, and demonstrate enrichment across genes active in neural tissues. We identify multiple rare variants near the imprinted genes MKRN3 and DLK1 that exhibit large effects on menarche only when paternally inherited. Disproportionate effects of variants on early or late puberty timing are observed: single variant and heritability estimates are larger for early than late puberty timing in females. The opposite pattern is seen in males, with larger estimates for late than early puberty timing. Mendelian randomization analyses indicate causal inverse associations, independent of BMI, between puberty timing and risks for breast and endometrial cancers in women, and prostate cancer in men. In aggregate, our findings reveal new complexity in the genetic regulation of puberty timing and support new causal links with adult cancer risks.

scholarly journals Sedentary lifestyle and precocious puberty in girls during COVID-19 pandemic: an Italian experience

2022 ◽  
Author(s):  
Laura Chioma ◽  
Carla Bizzarri ◽  
Martina Verzani ◽  
Daniela Fava ◽  
Mariacarolina Salerno ◽  
...  
Keyword(s):  
Precocious Puberty ◽  
Sedentary Lifestyle ◽  
Electronic Devices ◽  
Central Precocious Puberty ◽  
Final Diagnosis ◽  
Lifestyle Changes ◽  
Pediatric Endocrinology ◽  
Early Puberty ◽  
Italian Experience ◽  
Study Population

Objective: This retrospective study aimed to evaluate children observed for suspected precocious puberty in 5 Italian centers of Pediatric Endocrinology during the first wave of COVID-19 pandemic (March- September 2020), compared to subjects observed in the same period of the previous year. Design: The study population (490 children) was divided according to year of observation and final diagnosis: transient thelarche (TT), non-progressive precocious puberty (NPP), central precocious puberty (CPP), or early puberty (EP). Results: Between March and September 2020, 338 subjects were referred for suspected precocious puberty, compared to 152 subjects in the same period of 2019 (+222%). The increase was observed in girls (328 subjects in 2020 versus 140 in 2019, p<0.05), especially during the second half of the period considered (92 girls from March to May versus 236 girls from June to September); while no difference was observed in boys (10 subjects in 2020 versus 12 in 2019). The percentage of girls with confirmed CPP was higher in 2020, compared to 2019 (135/328 girls [41%] versus 37/140 [26%], p<0.01). Anthropometric and hormonal parameters in 2019 and 2020 CPP girls were not different; 2020 CPP girls showed a more prolonged use of electronic devices and a more sedentary lifestyle both before and during the pandemic, compared to the rest of the 2020 population. Conclusions: The present findings corroborate the recently reported association between the complex lifestyle changes related to the lockdown and a higher incidence of central precocious puberty in Italian girls.

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