Aromatase excess syndrome in a Chinese boy due to a novel duplication at 15q21.2

2019 ◽  
Vol 32 (1) ◽  
pp. 85-88 ◽  
Author(s):  
Xinrui Tan ◽  
Xiaochuan Wu ◽  
Jie Chen ◽  
Yan Wu ◽  
Shijun Li ◽  
...  
Keyword(s):  
Adult Height ◽  
Linear Growth ◽  
De Novo ◽  
Final Height ◽  
Clinical Manifestations ◽  
Bone Age ◽  
Autosomal Dominant Disorder ◽  
Case Presentation ◽  
Growth Promoting ◽  
Pubertal Gynecomastia

Abstract Background Aromatase excess syndrome (AEXS) is a rare autosomal dominant disorder caused by CYP19A1 overexpression. Clinical manifestations of AEXS include pre- or peri-pubertal gynecomastia, advanced bone age and compromised adult height. Case presentation Here we report an 8-year-old boy diagnosed with AEXS by chromosomal array that revealed a 1.1 Mb novel de novo duplication at 15q21.2, with a predicted final height of 157.4 cm. We prescribed letrozole and growth hormone (GH) to maximize his linear growth. Without further bone age advancement, his height increased from 137.7 cm to 144 cm after an 8-month treatment period. Conclusions We identified a novel duplication at 15q21.2 in AEXS, and found that aromatase inhibitor (AI) plus GH might provide a better growth-promoting approach for AEXS patients.

Height Increment and Laboratory Profile of Boys Treated With Aromatase Inhibitors With or Without Growth Hormone

2017 ◽  
Vol 49 (10) ◽  
pp. 778-785 ◽  
Author(s):  
Ludmila Pedrosa ◽  
Joice de Oliveira ◽  
Paula Thomé ◽  
Cristiane Kochi ◽  
Durval Damiani ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Aromatase Inhibitors ◽  
Adult Height ◽  
Final Height ◽  
Recombinant Human Growth Hormone ◽  
Human Growth ◽  
Bone Age ◽  
Height Loss ◽  
Retrospective Data Analysis ◽  
Height Gain

AbstractAromatase inhibitors (AIs) have been used to recover height loss due to their capacity to delay growth plate closure. Long-term studies describing final heights are needed to determine the efficacy and safety profiles of these drugs for the treatment of impaired growth. This study aims to identify the therapeutic efficiency of AIs in improve growth and to describe potential adverse effects during treatment. Retrospective data analysis of 96 adolescents, among which 22 patients already attained near-final height, were followed at outpatient clinics of two referral centers. Patients were all in puberty and present idiopathic decrease in predicted adult height. Patients were treated with Anastrozole (ANZ: 1 mg/day) or Letrozole (LTZ: 2.5 mg/day) with/without recombinant human growth hormone (0.05 mg/kg/day) for 1.0 to 3.5 years (2.1±1.2 years). Height gain, body mass index, lipid, liver enzyme, gonadotropins and testosterone levels were described before and at the end of treatment. Predicted adult height (PAH) and NF height were compared with the TH. The height SDS (adjusted to bone age) significantly increased (p<0.05) in all groups [0.8±0.7 (ANZ), 0.7±0.7 (ANZ+GH), 0.3±0.5 (LTZ), and 1.2±0.8 (LTZ+GH)]; the latter group exhibited the highest increment of PAH and growth recovery to the TH (p<0.004). No significant side effects were observed. AI treatment, especially when used in association with GH was able to improve growth and the attainment of familial target height.

scholarly journals Early diagnosis of a newborn with tuberous sclerosis caused by a genetic mutation

2021 ◽  
Vol 49 (8) ◽  
pp. 030006052110358
Author(s):  
Lin Qiao ◽  
Yuting Yang ◽  
Dongmei Yue
Keyword(s):  
Genetic Testing ◽  
Early Diagnosis ◽  
Tuberous Sclerosis ◽  
De Novo ◽  
Clinical Manifestations ◽  
De Novo Mutation ◽  
Heterozygous Mutation ◽  
Loss Of Function ◽  
Autosomal Dominant Disorder ◽  
Tsc1 Gene

Objective Tuberous sclerosis (TSC) is an autosomal dominant disorder, often detected during childhood. We present the results of genetic testing in a newborn with suspected TSC. Methods A newborn with no specific clinical manifestations of TSC showed evidence of TSC on magnetic resonance imaging and echocardiography. Next-generation sequencing (NGS) and multiple ligation-dependent probe amplification (MLPA) of the TSC1 and TSC2 gene exons were carried out to confirm the diagnosis. Results The results of MLPA were negative, but NGS showed a heterozygous mutation in the TSC1 gene comprising insertion of a T residue at c.2165 (exon 17) to c.2166 (exon 17), indicating a loss of function mutation. These results were verified by Sanger sequencing. This genetic change was present in the newborn but the parental genotypes were wild-type, indicating a de novo mutation. Conclusions In this case, a case of TSC caused by a heterozygous mutation in the TSC1 gene was confirmed by NGS sequencing. This indicates the suitability of genetic testing for the early diagnosis of clinically rare and difficult-to-diagnose diseases, to guide clinical treatment.

scholarly journals Evaluation of near final height in boys with constitutional delay in growth and puberty

2018 ◽  
Vol 7 (3) ◽  
pp. 456-459 ◽  
Author(s):  
Farzaneh Rohani ◽  
Mohammad Reza Alai ◽  
Sedighe Moradi ◽  
Davoud Amirkashani
Keyword(s):  
General Population ◽  
Adult Height ◽  
Final Height ◽  
Bone Age ◽  
Target Height ◽  
Pubertal Stage ◽  
X Ray ◽  
Constitutional Delay ◽  
Parental Height ◽  
The Mean

Background This study was conducted to find out whether boys with constitutional delay in growth and puberty (CDGP) could attain their target height and predicted adult height (PAH) in adulthood or not. Methods After measuring the height, weight, pubertal stage, parental height and bone age data of the patients at their first presentation were extracted from the files and their height and weight were measured at the end of the study, wrist X-Ray was performed in order to determine the bone age. PAH was calculated using Bayley–Pinneau method and target height was estimated by mid parental height. Final or near final heights of the patients were measured and compared with the target height and PAH. Results The mean age at presentation and the end of study was 15.2 ± 0.95, 20 ± 0.75 years respectively. Mean of bone age at the beginning of study was 12.97 ± 1 years and at the end of study were 17.6 ± 0.58 years. Mean of delayed bone age was 2.2 ± 0.82 years. Mean of the primary measured heights was 150.16 ± 7 cm (138–160 cm). Mean of final or near final heights was 165.7 ± 2.89 cm (161–170.5 cm). Final or near final heights in our subjects were smaller than either their PAH (165.7 ± 2.89 vs 170.7 ± 5.17) (P value <0.005) or target height (165.7 ± 2.89 vs 171.8 ± 4.65) (P value <0.0001). Conclusion Most patients with CDGP do not reach their target height or predicted adult height; they are usually shorter than their parents and general population. Such patients need to be followed up until they reach their final height and, in some cases, adjunctive medical treatment might be indicated.

Growth-promoting agents for nongrowth hormone-deficient short children

2011 ◽  
pp. 1083-1095
Author(s):  
Pierre Chatelain
Keyword(s):  
Growth Plate ◽  
Growth Phase ◽  
Growth Velocity ◽  
Adult Height ◽  
Final Height ◽  
Normal Range ◽  
Growth Plate Chondrocytes ◽  
Accelerate Growth ◽  
Short Children ◽  
Growth Promoting

Growth-promoting agents refer to compounds, existing naturally or otherwise, which, when given to a short child as a medication, will accelerate growth velocity (GV), bringing the child’s height closer to or within normal range. The first objective, normalizing height during the growth phase, may not normalize adult height, which is the second objective. The ideal growth-promoting agent should normalize both. The mechanism behind these two objectives is not fully understood. It seems that when the growth plate cartilage chondrocytes multiply, they also differentiate then stop multiplying. The balance between multiplication and differentiation of growth plate chondrocytes is key to normalizing final height.

scholarly journals Increased Final Height in Precocious Puberty after Long-Term Treatment with LHRH Agonists: The National Institutes of Health Experience

2001 ◽  
Vol 86 (10) ◽  
pp. 4711-4716 ◽  
Author(s):  
Karen Oerter Klein ◽  
Kevin M. Barnes ◽  
Janet V. Jones ◽  
Penelope P. Feuillan ◽  
Gordon B. Cutler Jr.
Keyword(s):  
Precocious Puberty ◽  
Adult Height ◽  
Final Height ◽  
Bone Age ◽  
Chronological Age ◽  
Lhrh Agonist ◽  
Duration Of Treatment ◽  
Long Term Treatment ◽  
Predicted Height

We report 98 children who have reached final adult height in a long-term trial of LHRH agonist treatment. These children were 5.3± 2.1 yr old at the start of treatment and were treated with either deslorelin (4 μg/kg·d sc) or histrelin (4–10 μg/kg·d) for an average of 6.1 ± 2.5 yr. Final height averaged 159.8 ± 7.6 cm in the 80 girls, which was significantly greater than pretreatment predicted height (149.3 ± 9.6 cm) but still significantly less than midparental height (MPH) (163.7 ± 5.6). Final height averaged 171.1 ± 8.7 cm in the 18 boys, which was significantly greater than pretreatment predicted height (156.1 ± 14.2 cm) but still significantly less than MPH (178.3 ± 5.2 cm). However, the average adult height of the 54 children who had less than a 2-yr delay in the onset of treatment was not significantly different from their MPH, and 21 children exceeded MPH. Final height sd score correlated positively with duration of treatment (P &lt; 0.01), midparental height (P &lt; 0.001), predicted height at the start of treatment (P &lt; 0.001), and growth velocity during the last year of treatment (P &lt; 0.001) and correlated inversely with delay in the onset of treatment (P &lt; 0.001), age at the start of treatment (P &lt; 0.001), bone age at the start of treatment (P &lt; 0.001), bone age at the end of treatment (P &lt; 0.001), breast stage at the start of treatment (P = 0.02), and bone age minus chronological age at the start of treatment (P = 0.001). We conclude that LHRH agonist treatment improves the final height for children with rapidly progressing precocious puberty treated before the age of 8 yr for girls or 9 yr for boys. Less delay in the onset of treatment, longer duration of treatment, and lower chronological and bone age at the onset of treatment all lead to greater final height. All children with onset of pubertal symptoms before age 8 in girls and age 9 in boys should be evaluated for possible treatment. Treatment is appropriate in children with rapidly progressing puberty, accelerated bone maturation, and compromise of adult height prediction, regardless of bone age or chronological age at time of evaluation. However, once treatment is considered appropriate, it should be initiated quickly, because longer delays lead to shorter final height. In addition, the longer the treatment is continued, the greater is the final height outcome.

scholarly journals Pituitary function in children with hydrocephalus before and after the first shunting operation

1998 ◽  
pp. 170-175 ◽  
Author(s):  
T Lopponen ◽  
AL Saukkonen ◽  
W Serlo ◽  
P Tapanainen ◽  
A Ruokonen ◽  
...  
Keyword(s):  
Linear Growth ◽  
Final Height ◽  
Bone Age ◽  
Prolactin Secretion ◽  
Pituitary Function ◽  
Poor Growth ◽  
Gh Secretion ◽  
Function Design ◽  
Before And After ◽  
Igfbp 3

OBJECTIVE: Children with shunted hydrocephalus experience slow linear growth in prepuberty, accelerated pubertal maturation and a reduced final height. A substantial proportion of these patients have a poor growth hormone (GH) response to stimulation and reduced pituitary volume. The basic mechanisms behind these phenomena are still unknown, but one can hypothesize that an unphysiological intracranial pressure (ICP) may be involved. This study was undertaken to investigate the effect of increased ICP on pituitary function. DESIGN: Twenty-one children (nine males) aged 4 months to 15 years were evaluated for pituitary function before and after their first shunting operation. METHODS: A clinical examination was performed, bone age was determined and a combined pituitary stimulation test was performed to evaluate GH, luteinizing hormone, follicle-stimulating hormone, cortisol, thyrotropin and prolactin secretion. RESULTS: GH concentrations were significantly higher 10 and 15 min before the operation (P=0.04 and P=0.03 respectively) than after it. The basal levels of insulin-like growth factor-I (IGF-I) tended to be higher before the operation than afterwards and those of its binding protein-3 (IGFBP-3) were significantly so (P<0.01). CONCLUSIONS: The higher GH response to GH releasing hormone and circulating IGFBP-3 levels in children with hydrocephalus before compared with after their first shunting operation raise the possibility that the reduced GH secretion and retarded linear growth observed in children with shunted hydrocephalus may be a consequence of decreased ICP and/or the lack of physiological pressure variations.

scholarly journals Diagnosis of hereditary hemorrhagic telangiectasia in a pediatric patient admitted with diabetes: the utility of genetic testing

2021 ◽  
Vol 2 (3) ◽  
pp. 01-02
Author(s):  
Alvaro E. Galvis ◽  
Beatrice Batoczki ◽  
Iris S. Pecson ◽  
Evan Vidal ◽  
Craig T. Nakamura
Keyword(s):  
Genetic Testing ◽  
Pediatric Patient ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Autosomal Dominant ◽  
Wide Spectrum ◽  
Clinical Manifestations ◽  
Autosomal Dominant Disorder ◽  
Case Presentation ◽  
History Of ◽  
Vascular Dysplasia

Background: Hereditary hemorrhagic telangiectasia (HHT) formerly known as Osler-Weber-Rendu syndrome is a rare autosomal dominant disorder characterized by vascular dysplasia and a wide spectrum of clinical manifestations. Case presentation: We report the case of an undiagnosed pediatric patient who presented hypoxemia on clinical exam as the only suggestive feature for the presence of HHT. Conclusions: Although HHT diagnosis is based on the finding of characteristic clinical features genetic testing should also be implemented when a family history of the disease is present to help confirm or refute the diagnosis.

scholarly journals Final Height in Pubertal Short Stature Boys Treated with GH Combination with Letrozole: A retrospective study

2021 ◽  
Author(s):  
Yaping Ma ◽  
Ruofan Jia ◽  
Bingyang Xia ◽  
Bin Tang ◽  
Zhuangjian Xu
Keyword(s):  
Retrospective Study ◽  
Short Stature ◽  
Adult Height ◽  
Final Height ◽  
Standard Deviation Score ◽  
Bone Age ◽  
Growth Potential ◽  
Target Height ◽  
Final Adult Height ◽  
Epiphyseal Fusion

Abstract BackgroundThe growth potential of pubertal short stature boys is limited by the effect of estrogen on epiphyseal fusion. This study aims to identify the efficacy and safety of growth hormone (GH) combination with letrozole on final adult height (FAH) in pubertal short stature boys. MethodsThis is a retrospective study. Among pubertal short stature boys who treated with GH and letrozole were be followed up in our hospital, 20 cases reached FAH. ResultsBaseline chronological age were 12.12±1.14yr, bone age were 13.00±0.93yr. The treatment duration was 1.94±0.67yr. The height standard deviation score for bone age was increased from -1.46±0.51 to -0.12±0.57 (p<0.000). The predicted FAH before treatment, predicted FAH after treatment, FAH, and genetic target height were 161.02 ±4.12 cm, 172.11±4.20 cm, 172.67±2.72cm and 167.67±3.56 cm, respectively. There was significant differences between predicted FAH before treatment and after treatment (p<0.000), as well as predicted FAH before treatment and genetic target height (p<0.000).The predicted FAH after treatment was higher than that of genetic target height (p<0.001), as well as FAH and genetic target height (p<0.000). ConclusionsThe GH combination with letrozole can enhance the FAH in pubertal short stature boys. No significant side effects were observed.

Slow Prepubertal Linear Growth but Early Pubertal Growth Spurt in Patients With Shunted Hydrocephalus

PEDIATRICS ◽  
1995 ◽  
Vol 95 (6) ◽  
pp. 917-923
Author(s):  
Tuija Löppönen ◽  
Anna-Liisa Saukkonen ◽  
Willy Serlo ◽  
Peter Lanning ◽  
Mikael Knip
Keyword(s):  
Linear Growth ◽  
Final Height ◽  
Relative Weight ◽  
Bone Age ◽  
Growth Spurt ◽  
Healthy Children ◽  
Growth Data ◽  
Pubertal Growth Spurt ◽  
Anthropometric Measures ◽  
Pubertal Growth

Objective. To evaluate growth and to compare anthropometric measures and the degree of physical maturation in children with shunted hydrocephalus with those in healthy children. Methods. One hundred fourteen patients (62 male) and 73 healthy subjects (38 male) 5 to 20 years of age were analyzed for growth data and current auxology, stage of puberty, and bone age. Results. Boys with hydrocephalus were shorter than control boys during their first 8 years of age, and no catch-up growth was observed until puberty. Girls with hydrocephalus were of the same size at birth as the control girls, but their linear growth retarded during the first years of life, leading to reduced relative height between the age of 5 to 8 years. The pubertal growth spurt occurred earlier in boys with hydrocephalus (age at midgrowth spurt, 12.1 vs 13.3 years), and a similar trend was seen in girls (10.0 vs 10.7 years). The final height was again reduced, especially in boys. Patients with hydrocephalus were more obese than control subjects, girls more often than boys. Relative bone age was retarded in prepubertal (-0.42 vs 0.32 SD) and accelerated in pubertal patients (0.54 vs -0.19 SD). Conclusions. Children with hydrocephalus experience slow linear growth in prepuberty, but they have an earlier adolescent growth spurt. Together these factors result in a reduced final height. An increase in relative weight emerges in the preadolescent period, and this phenomenon is accentuated after puberty, leading to an increased prevalence of obesity.

STEROIDAL INDUCTION OF THE PREMATURE GROWTH SPURT IN PREPUBERTAL BOYS FOR EXCESSIVE HEIGHT

1965 ◽  
Vol 50 (2) ◽  
pp. 317-320 ◽  
Author(s):  
M. James Whitelaw ◽  
Thomas N. Foster ◽  
William H. Graham
Keyword(s):  
Linear Growth ◽  
Final Height ◽  
Bone Age ◽  
Growth Spurt ◽  
Sex Characteristics ◽  
Secondary Sex Characteristics ◽  
Growth Increase ◽  
Genital Development ◽  
Anabolic Therapy ◽  
Prepubertal Boys

ABSTRACT Five prepubertal males ranging in age from 8–11 and whose estimated heights were all over 195 cm were treated by the induction of a premature puberty with testosterone oenanthate 200 mg twice monthly for 9 months in 4 and 5 months in one. During the first 8 months their linear growth increase ranged between 13.7 and 6.4 cm. There was also a corresponding sharp increase in weight of as much as 17.24 kg in one patient. The bone age advanced 51 months in a 9 year old boy, while in the eldest, age 11, the advance was only 24 months. There is a definite lag in the radiological evidence of epiphyseal acceleration for the first 3–4 months of anabolic therapy. After discontinuation of therapy, evidence of acceleration may persist for a like period. The final height of 4 boys is far under the estimated height on the Bayley table, the fifth is still not determined. Genital development and secondary sex characteristics were noted after the first month of therapy. The growth spurt induced by testosterone oenanthate duplicated that normally seen in the 12–14 year old boy. There is no psychic disturbance by the induction of puberty.

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