Skeletal Features and Growth Patterns in 14 Patients with Haploinsufficiency of SHOX: Implications for the Development of Turner Syndrome

1999 ◽  
Vol 84 (12) ◽  
pp. 4613-4621 ◽  
Author(s):  
Tomoki Kosho ◽  
Koji Muroya ◽  
Toshiro Nagai ◽  
Masatoshi Fujimoto ◽  
Susumu Yokoya ◽  
...  
Keyword(s):  
Short Stature ◽  
Growth Patterns ◽  
Pseudoautosomal Region ◽  
Growth Spurt ◽  
Pubertal Growth Spurt ◽  
Cubitus Valgus ◽  
Partial Monosomy ◽  
Early Maturation ◽  
Pubertal Growth ◽  
Skeletal Lesions

We report on clinical features in 14 Japanese patients (4 males and 10 females) with partial monosomy of the short arm pseudoautosomal region involving SHOX (n = 11) or total monosomy of the pseudoautosomal region with no involvement of disease genes on the sex-differential regions (n = 3). Skeletal assessment showed that three patients had no discernible skeletal abnormalities, one patient exhibited short 4th metacarpals and borderline cubitus valgus, and the remaining 10 patients had Madelung deformity and/or mesomelia characteristic of Léri-Weill dyschondrosteosis (LWD), together with short 4th metacarpals and/or cubitus valgus. Skeletal lesions were more severe in females and became obvious with age. Growth evaluation revealed that patients without LWD grew along by the −2 sd growth curve before puberty and showed a normal or exaggerated pubertal growth spurt, whereas those with LWD grew along by the standard growth curves before puberty but exhibited an attenuated pubertal growth spurt and resultant short stature. Maturational assessment indicated a tendency of relatively early maturation in patients with LWD. There was no correlation between the clinical phenotype and the deletion size. These findings suggest that haploinsufficiency of SHOX causes not only short stature but also Turner skeletal anomalies (such as short 4th metacarpals, cubitus valgus, and LWD) and that growth pattern is primarily dependent on the presence or absence of LWD. Because skeletal lesions have occurred in a female-dominant and age-influenced fashion, it is inferred that estrogens exert a maturational effect on skeletal tissues that are susceptible to premature fusion of growth plates because of haploinsufficiency of SHOX, facilitating the development of skeletal lesions.

Management of Puberty for Optimal Auxological Results in β-Thalassaemia Major

2001 ◽  
Vol 14 (s2) ◽  
Author(s):  
Manuela Caruso-Nicoletti ◽  
V. De Sanctis ◽  
L. Cavallo ◽  
G. Raiola ◽  
L. Ruggiero ◽  
...  
Keyword(s):  
Short Stature ◽  
Final Height ◽  
Growth Failure ◽  
Normal Growth ◽  
Growth Spurt ◽  
Endocrine Disorders ◽  
Thalassaemia Major ◽  
Pubertal Growth Spurt ◽  
Pubertal Growth ◽  
Height Gain

AbstractShort stature is present in a significant percentage of patients affected by β-thalassaemia major. Growth failure of patients with thalassaemia is multifactorial. The most important contribution is attributed to the toxic effect desferrioxamine and to endocrine disorders, due to iron overload. The commonest endocrine complication is hypogonadism. The growth pat- tern of patients with thalassaemia is characterized by normal growth during childhood, a deceleration of growth velocity around age 9-10 years, and a reduced pubertal growth spurt. In addition, reduced growth of the trunk is often present. Short stature and short trunk are more evident at pubertal age. Hypogonadism is usually considered responsible for the pubertal growth failure, as well as the aggravation of body disproportion at pubertal age. However, data suggest that pubertal height gain and final height are reduced in both patients with spontaneous puberty and patients with induced puberty. It is concluded that several aspects of peripubertal growth in patients with thalassaemia remain to be clarified.

scholarly journals Serum DHEA-S levels could be used as a comparable diagnostic test to assess the pubertal growth spurt in dentofacial orthopedics

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
V. Anusuya ◽  
Amit Nagar ◽  
Pradeep Tandon ◽  
G. K. Singh ◽  
Gyan Prakash Singh ◽  
...  
Keyword(s):  
Diagnostic Test ◽  
Growth Spurt ◽  
Pubertal Growth Spurt ◽  
Pubertal Growth ◽  
Dentofacial Orthopedics

Prepubertal urinary estrogen excretion and its relationship with pubertal timing

2010 ◽  
Vol 299 (6) ◽  
pp. E990-E997 ◽  
Author(s):  
Lijie Shi ◽  
Thomas Remer ◽  
Anette E. Buyken ◽  
Michaela F. Hartmann ◽  
Philipp Hoffmann ◽  
...  
Keyword(s):  
Pubertal Timing ◽  
Height Velocity ◽  
Breast Development ◽  
Growth Spurt ◽  
Age At Menarche ◽  
Healthy Children ◽  
Pubertal Growth Spurt ◽  
Peak Height Velocity ◽  
Pubertal Growth ◽  
Estrogen Production

Whether prepubertal estrogen production impacts on the timing of puberty is not clear. We aimed to investigate prepubertal 24-h estrogen excretion levels and their association with early and late pubertal markers. Daily urinary excretion rates of estrogens of 132 healthy children, who provided 24-h urine samples 1 and 2 yr before the start of the pubertal growth spurt [age at takeoff (ATO)], were quantified by stable isotope dilution/GC-MS. E-sum3 (estrone + estradiol + estriol) was used as a marker for potentially bioactive estrogen metabolites and E-sum5 (E-sum3 + 16-epiestriol + 16-ketoestradiol) for total estrogen production. Pubertal outcomes were ATO, age at peak height velocity (APHV), duration of pubertal growth acceleration (APHV-ATO), age at Tanner stage 2 for pubic hair (PH2), genital (G2, boys) and breast (B2, girls) development, and age at menarche. Prepubertal urinary estrogen excretions (E-sum3 and E-sum5) were not associated with ATO, APHV, and age at PH2 but with duration of pubertal growth acceleration ( P < 0.01) in both sexes. Girls with higher E-sum3 reached B2 0.9 yr ( P = 0.04) and menarche 0.3 yr earlier ( P = 0.04) than girls with lower E-sum3. E-sum3 was not associated with age at G2 in boys ( P = 0.6). For most pubertal variables, the associations with E-sum3 were stronger than with E-sum5. In conclusion, prepubertal estrogens may not be critical for the onset of the pubertal growth spurt but are correlated with its duration in both boys and girls. Prepubertal estrogen levels may already predict the timing of girls' menstruation and breast development but do not appear to affect sexual maturation in boys.

Are there gender differences in sagittal spinal pelvic inclination before and after the adolescent pubertal growth spurt?

2014 ◽  
Vol 24 (6) ◽  
pp. 1168-1174 ◽  
Author(s):  
Weijun Wang ◽  
Zhiwei Wang ◽  
Zhen Liu ◽  
Zezhang Zhu ◽  
Feng Zhu ◽  
...  
Keyword(s):  
Gender Differences ◽  
Growth Spurt ◽  
Pubertal Growth Spurt ◽  
Pubertal Growth ◽  
Pelvic Inclination ◽  
Before And After

Questions on the Use of Vitamin D3

PEDIATRICS ◽  
1980 ◽  
Vol 66 (3) ◽  
pp. 483-484
Author(s):  
Sonia Balsan ◽  
Robert Steendijk
Keyword(s):  
Growth Velocity ◽  
Point Of View ◽  
Hypophosphatemic Rickets ◽  
Growth Spurt ◽  
Vitamin D2 ◽  
Pubertal Growth Spurt ◽  
Dihydroxyvitamin D3 ◽  
Pubertal Growth ◽  
Careful Scrutiny ◽  
Late Maturer

From their observations in a boy with hypophosphatemic rickets Chan and Bartter1 conclude that administration of 1α,25-dihydroxyvitamin D3 (1,25-(OH)2D3) is the treatment of choice for this disease. Since this point of view is not shared by everybody, it demands careful scrutiny. The conclusion rests on the increased growth velocity, the radiologic healing of the rachitic lesions, and the increase in serum phosphorus which occurred when treatment was changed from vitamin D2 to 1,25-(OH)2D3. From the growth curve of this boy it appears that the increase in growth velocity could represent the pubertal growth spurt in a late maturer.

Variability of the dynamics of somatometric parameters in schoolchildren with different nutritional status (longitudinal study)

2020 ◽  
Vol 15 (5) ◽  
pp. 68-72
Author(s):  
V.L. Gritsinskaya ◽  
◽  
V.P. Novikova ◽  
A.I. Khavkin ◽  
◽  
...  
Keyword(s):  
Nutritional Status ◽  
High Amplitude ◽  
Physical Development ◽  
Growth Spurt ◽  
Pubertal Growth Spurt ◽  
Pubertal Growth ◽  
Normal Limits ◽  
Study Participants ◽  
Two Peaks ◽  
Low Amplitude

Objective. To identify specific features of pubertal growth spurt in adolescents depending on their nutritional status in prepuberty. Patients and methods. We analyzed the dynamics of height and weight in 645 children (331 boys and 314 girls) aged between 8 and 16 years. All study participants were divided into three groups depending on whether their weight and height at the age of 8 years were within the normal limits given in the ‘WHO Growth Reference 2007’: children with physical development; underweight children; and overweight children. Results. The dynamics of somatometric parameters during pubertal growth spurt varied between children with different nutritional status. Underweight boys demonstrated prolonged and low-amplitude pubertal growth pattern; in boys with normal physical development, the growth spurt was usually shorter and had high amplitude. In overweight boys, the pubertal growth spurt started with higher annual increase in height, had a more pronounced amplitude, and was shorter than in peers (р < 0.001 ÷ р < 0.05). Both underweight girls and girls with normal physical development demonstrated low-amplitude pubertal growth spurt lasting for two years. Overweight girls had two peaks of pubertal growth spurt, which usually started earlier than in other girls (р < 0.001 ÷ р < 0.01). Conclusion. Our findings can be used as a guide for predicting pubertal spurt in children during medical examinations, determining adequate physical activity in physical education classes at school and in sports sections. Key words: children, nutritional status, pubertal growth spurt

Precocious Puberty: Diagnosis, Evaluation, and Management

1993 ◽  
Vol 14 (9) ◽  
pp. 336-367
Keyword(s):  
The United States ◽  
Gonadotropin Releasing Hormone ◽  
Growth Spurt ◽  
Transitional Stage ◽  
Pubertal Growth Spurt ◽  
Adrenal Androgen ◽  
Secondary Sexual Characteristics ◽  
Pubertal Growth ◽  
Sexual Characteristics ◽  
Physical Changes

Puberty is a transitional stage associated with many changes, both physical and emotional. The endocrinologic changes, consisting of two processes, gonadarche and adrenarche, result in the development of secondary sexual characteristics and the pubertal growth spurt. Gonadarche, the maturation of the gonads, is initiated by the episodic pulsatile secretion of gonadotropin-releasing hormone (GnRH) from the hypothalamus. Adrenarche refers to the increase in adrenal androgen secretion (the mechanism responsible for this is unknown). Both of these processes cause an increase in sex steroid secretion, which results in the physical changes of puberty. In the United States, normal puberty occurs between 8 to 13 years in girls and 9 to 14 years in boys.

Ontogeny of GH mRNA and GH secretion in male and female rats: regulation by GH-releasing hormone

1993 ◽  
Vol 265 (2) ◽  
pp. E236-E242 ◽  
Author(s):  
Z. Hu ◽  
R. D. Friberg ◽  
A. L. Barkan
Keyword(s):  
Growth Rate ◽  
Monosodium Glutamate ◽  
Somatic Growth ◽  
Female Rats ◽  
Growth Spurt ◽  
Pubertal Growth Spurt ◽  
Releasing Hormone ◽  
Pubertal Growth ◽  
Igf I ◽  
Mrna Content

Growth hormone-releasing hormone (GHRH) has been shown in vitro to increase proliferation of pituitary somatotrophs, to increase transcription of the GH gene, to promote accumulation of GH mRNA, and to stimulate GH release. The in vivo involvement of hypothalamic GHRH in regulating GH mRNA content had never been clearly documented. We studied pituitary GH mRNA and GH contents and serum concentrations of GH and insulin-like growth factor I (IGF-I) in rats of both sexes during pubertal growth spurt and investigated the effects of GHRH deficiency (brought about by neonatal administration of monosodium glutamate, MSG) and exogenous GHRH administration on these parameters. In both sexes, GH mRNA content increased three- to fourfold between 4 and 12 wk of life and declined thereafter toward 33 wk of life. This was accompanied by virtually parallel changes in pituitary GH content and in serum IGF-I. Neonatal MSG abolished the pubertal increases in GH mRNA, pituitary GH, and serum IGF-I and severely impaired growth rate. Exogenous GHRH (25 micrograms/kg sc every 8 h for 7 days) given to intact animals between 6 and 7 wk of life significantly augmented pituitary GH mRNA content but was less effective in MSG-treated rats. We conclude that 1) pubertal growth spurt in both sexes is associated with rising pituitary GH mRNA content; 2) GHRH deficiency abolishes the puberty-associated increase in GH synthesis and secretion and attenuates somatic growth rate; and 3) exogenous GHRH augments GH mRNA content. Thus puberty-associated augmentation of GHRH secretion is an important mechanism of somatic growth.

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