scholarly journals Maternal uniparental disomy of the chromosome 14: need for growth hormone provocative tests also when a deficiency is not suspected

2019 ◽  
Vol 12 (5) ◽  
pp. e228662 ◽  
Author(s):  
Anna Tortora ◽  
Domenico La Sala ◽  
Fortunato Lonardo ◽  
Mario Vitale
Keyword(s):  
Growth Hormone ◽  
Precocious Puberty ◽  
Clinical Presentation ◽  
Marker Chromosome ◽  
Uniparental Disomy ◽  
Gnrh Analogue ◽  
Chromosome 14 ◽  
Maternal Uniparental Disomy ◽  
Temple Syndrome ◽  
One Year

Uniparental disomy (UPD) is a congenital disease characterised by the presence of two homologous chromosomes inherited from one parent in a diploid offspring. Maternal UPD of the chromosome 14 (UPD(14)mat, Temple syndrome) is a rare disorder with heterogeneous clinical presentation. Here, we report a case of UPD(14)mat with a small supernumerary marker chromosome in a 6-year-old baby girl, presenting endocrinological disorders and incomplete clinical presentation. She came to our attention because of precocious beginning of pubarche and normal stature. Most of Temple syndrome signs were lacking. Provocative tests diagnosed incomplete growth hormone (GH) response and confirmed precocious puberty. One year treatment with recombinant human GH and gonadotropin-releasing hormone (GnRH) agonists proved successful, increasing height and arresting puberty. We recommend provocative tests for GH in UPD(14)mat as a GH deficiency can be hidden by a concurrent precocious puberty. Concomitant human GH and GnRH analogue treatment can be pursued.

Positive effect of growth hormone treatment in maternal uniparental disomy chromosome 14

2015 ◽  
Vol 83 (5) ◽  
pp. 671-676 ◽  
Author(s):  
Susanne E. Stalman ◽  
Gerdine A. Kamp ◽  
Yvonne M.C. Hendriks ◽  
Raoul C.M. Hennekam ◽  
Joost Rotteveel
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Treatment ◽  
Uniparental Disomy ◽  
Hormone Treatment ◽  
Chromosome 14 ◽  
Maternal Uniparental Disomy ◽  
Positive Effect

scholarly journals Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14

2009 ◽  
Vol 2009 (jul01 1) ◽  
pp. bcr0620091997-bcr0620091997 ◽  
Author(s):  
I K Temple ◽  
V Shrubb ◽  
M Lever ◽  
H Bullman ◽  
D J G Mackay
Keyword(s):  
Clinical Presentation ◽  
Uniparental Disomy ◽  
Chromosome 14 ◽  
Maternal Uniparental Disomy

scholarly journals Mice Lacking Paternally Expressed Pref-1/Dlk1 Display Growth Retardation and Accelerated Adiposity

2002 ◽  
Vol 22 (15) ◽  
pp. 5585-5592 ◽  
Author(s):  
Yang Soo Moon ◽  
Cynthia M. Smas ◽  
Kichoon Lee ◽  
Josep A. Villena ◽  
Kee-Hong Kim ◽  
...  
Keyword(s):  
Human Chromosome ◽  
Growth Retardation ◽  
Uniparental Disomy ◽  
Chromosome 14 ◽  
Tissue Mass ◽  
Imprinted Gene ◽  
Maternal Uniparental Disomy ◽  
Skeletal Malformation

ABSTRACT Preadipocyte factor 1 (Pref-1/Dlk1) inhibits in vitro adipocyte differentiation and has been recently reported to be a paternally expressed imprinted gene at human chromosome 14q32. Studies on human chromosome 14 deletions and maternal uniparental disomy (mUPD) 14 suggest that misexpression of a yet-to-be-identified imprinted gene or genes present on chromosome 14 causes congenital disorders. We generated Pref-1 knockout mice to assess the role of Pref-1 in growth and in vivo adipogenesis and to determine the contribution of Pref-1 in mUPD. Pref-1-null mice display growth retardation, obesity, blepharophimosis, skeletal malformation, and increased serum lipid metabolites. Furthermore, the phenotypes observed in Pref-1-null mice are present in heterozygotes that harbor a paternally inherited, but not in those with a maternally inherited pref-1-null allele. Our results demonstrate that Pref-1 is indeed paternally expressed and is important for normal development and for homeostasis of adipose tissue mass. We also suggest that Pref-1 is responsible for most of the symptoms observed in mouse mUPD12 and human mUPD14. Pref-1-null mice may be a model for obesity and other pathologies of human mUPD14.

Safety and effectiveness of growth hormone therapy in infants with Prader-Willi syndrome younger than 2 years: a prospective study

2019 ◽  
Vol 32 (8) ◽  
pp. 879-884 ◽  
Author(s):  
Raquel Corripio ◽  
Carla Tubau ◽  
Laura Calvo ◽  
Carme Brun ◽  
Núria Capdevila ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Prospective Study ◽  
Mixed Model ◽  
Standard Deviation Score ◽  
Uniparental Disomy ◽  
Chromosome 15 ◽  
Prader Willi Syndrome ◽  
Gh Treatment ◽  
Maternal Uniparental Disomy ◽  
A Prospective Study

Abstract Background There is little evidence of the effects of early treatment with growth hormone (GH) in infants with Prader-Willi syndrome (PWS). A prospective study was conducted to assess the safety of GH therapy in infants younger than 2 years of age with PWS. Methods A total of 14 patients with PWS started treatment with GH under the age of 2 years and were followed over a 2-year period. A deletion of chromosome 15 was present in nine infants (64.3%) and maternal uniparental disomy 15 in five infants (35.7%). The median age at start of GH treatment was 9.6 months (interquartile range [IQR] 9.0–18.3 months). Changes in height standard deviation score (SDS), body mass index (BMI) SDS and subcapsular and tricipital skinfolds in the follow-up period were evaluated with a mixed-model regression analysis using the Package R. Results There were no fatal adverse events. A significant decrease (p < 0.001) in tricipital and subcapsular skinfold thickness, with an upward trend of height SDS and a downward trend of BMI SDS, was observed. Infants who started GH before 15 months of age started walking at a median of 18.0 [17.0–19.5] months vs. 36.6 [36.3–37.8] months for those who began treatment with GH after 15 months of age (p = 0.024). Conclusions GH treatment in infants with PWS less than 2 years of age is safe and improved body composition. Infants who received GH before the age of 15 months started to walk earlier.

The effects of treatment combining an agonist of gonadotropin-releasing hormone with growth hormone in pubertal patients with isolated growth hormone deficiency

1989 ◽  
Vol 120 (6) ◽  
pp. 795-799 ◽  
Author(s):  
Jean Edmond Toublanc ◽  
Claire Couprie ◽  
Philippe Garnier ◽  
Jean-Claude Job
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Final Height ◽  
Bone Age ◽  
Hormone Deficiency ◽  
Gnrh Analogue ◽  
Isolated Growth Hormone Deficiency ◽  
One Year ◽  
Long Acting

Abstract. The final height of patients treated with growth hormone for isolated growth hormone deficiency has, up to now, been subnormal, with a mean below −2 sd in the series reported, an insufficient height at the onset of puberty and a more or less accelerated bone maturation during puberty being two important factors of the poor results. A long-acting analogue of gonadoliberin, Trp6-GnRH, has been given to GH-treated patients with isolated growth hormone deficiency at the time they reached pubertal stage 2, in combination with unchanged doses of GH, for one year in 11 and for two years in 7 of them. It resulted in an increase in the height age/bone age ratio and a reduction of the height insufficiency for bone age. The increase was slight but significant after one year, and fair after two years, in spite of a reduced annual growth rate. Post-analogue follow-up in 5 patients with continued GH treatment showed a good development of growth and of puberty. It is concluded that combination of the long-acting Trp6-GnRH analogue and GH for 1–2 years in patients with isolated growth hormone deficiency whose puberty starts with a very insufficient height may be an appropriate way to improve their growth parameters. Studies with increased doses of GH or increased frequency of injections could help to optimize the results. Several years of follow-up are needed for demonstrating the results on final height.

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