Central precocious puberty in a boy with 22q13 deletion syndrome and NOTCH-1 gene duplication

被引:11
作者
Giannakopoulos, Aris [1 ]
Fryssira, Helen [2 ]
Tzetis, Maria [2 ]
Xaidara, Athina [3 ]
Kanaka-Gantenbein, Christina [3 ]
机构
[1] Univ Patras, Pediat Endocrinol Juvenile Diabet, Div Endocrinol Diabet & Metab, Dept Pediat, Rion 26500, Greece
[2] Univ Athens, Dept Med Genet, Sch Med, Aghia Sophia Childrens Hosp, Athens, Greece
[3] Univ Athens, Sch Med, Dept Pediat 1, Aghia Sophia Childrens Hosp, Athens, Greece
关键词
deletion; 22q13.3; syndrome; developmental delay; Notch-1; gene; Phelan-McDermid syndrome; precocious puberty; LINKAGE SCAN; ASSOCIATION; AGE; KISSPEPTIN; MUTATIONS;
D O I
10.1515/jpem-2015-0484
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
The 22q13 deletion syndrome or Phelan-McDermid syndrome is a neurodevelopmental disorder associated with developmental delay, hypotonia, delayed or absent speech, autistic-like behavior, normal to accelerated growth and dysmorphic faces. We report the occurrence of central precocious puberty in a boy diagnosed with Phelan-McDermid syndrome. At the age of 1 year, our patient presented with increased testicular volume for his age, bone age advancement and growth acceleration. Stimulated gonadotropin levels demonstrated a premature activation of the hypothalamic-pituitary-gonadal (HPG) axis. Central precocious puberty was treated with gonadotropin-releasing hormone (GnRH) analog. Molecular diagnosis with array-comparative genomic hybridization (CGH) revealed a major deletion of 5.8 Mb at the 22q13 chromosomal region and a 25 kb duplication at the 9q34.3 region that included the NOTCH-1 gene. On the background of 22q13 deletion syndrome and data from animals on the effect of abnormal NOTCH-1 gene expression on kisspeptin neuron formation, we discuss the probable role of Notch signaling in the premature activation of the HPG axis.
引用
收藏
页码:1307 / 1311
页数:5
相关论文
共 21 条
[1]   A genome-wide linkage scan for age at menarche in three populations of European descent [J].
Anderson, Carl A. ;
Zhu, Gu ;
Falchi, Mario ;
van den Berg, Stephanie M. ;
Treloar, Susan A. ;
Spector, Timothy D. ;
Martin, Nicholas G. ;
Boomsma, Dorret I. ;
Visscher, Peter M. ;
Montgomery, Grant W. .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2008, 93 (10) :3965-3970
[2]   Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features [J].
Aradhya, Swaroop ;
Manning, Melanie A. ;
Splendore, Alessandra ;
Cherry, Athena M. .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (13) :1431-1441
[3]   Investigating the role of X chromosome breakpoints in premature ovarian failure [J].
Baronchelli, Simona ;
Villa, Nicoletta ;
Redaelli, Serena ;
Lissoni, Sara ;
Saccheri, Fabiana ;
Panzeri, Elena ;
Conconi, Donatella ;
Bentivegna, Angela ;
Crosti, Francesca ;
Sala, Elena ;
Bertola, Francesca ;
Marozzi, Anna ;
Pedicini, Antonio ;
Ventruto, Marialuisa ;
Police, Maria Adalgisa ;
Dalpra, Leda .
MOLECULAR CYTOGENETICS, 2012, 5
[4]   Rbpj-κ mediated Notch signaling plays a critical role in development of hypothalamic Kisspeptin neurons [J].
Biehl, Matthew J. ;
Raetzman, Lori T. .
DEVELOPMENTAL BIOLOGY, 2015, 406 (02) :235-246
[5]   Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome [J].
Bonaglia, M. C. ;
Giorda, R. ;
Mani, E. ;
Aceti, G. ;
Anderlid, B-M ;
Baroncini, A. ;
Pramparo, T. ;
Zuffardi, O. .
JOURNAL OF MEDICAL GENETICS, 2006, 43 (10) :822-828
[6]   CORRELATION OF LUTEINIZING-HORMONE-RELEASING FACTOR-INDUCED LUTEINIZING-HORMONE AND FOLLICLE-STIMULATING-HORMONE RELEASE FROM INFANCY TO 19 YEARS WITH THE CHANGING PATTERN OF GONADOTROPIN-SECRETION IN AGONADAL PATIENTS - RELATION TO THE RESTRAINT OF PUBERTY [J].
CONTE, FA ;
GRUMBACH, MM ;
KAPLAN, SL ;
REITER, EO .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1980, 50 (01) :163-168
[7]   The Role of Kisspeptin in the Onset of Puberty and in the Ovulatory Mechanism: A Mini-review [J].
Cortes, Manuel E. ;
Carrera, Barbara ;
Rioseco, Hernan ;
Pablo del Rio, Juan ;
Vigil, Pilar .
JOURNAL OF PEDIATRIC AND ADOLESCENT GYNECOLOGY, 2015, 28 (05) :286-291
[8]   Commentary: A window of opportunity: The diagnosis of gonadotropin deficiency in the male infant [J].
Grumbach, MM .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2005, 90 (05) :3122-3127
[9]   Genomewide linkage scan for quantitative trait loci underlying variation in age at menarche [J].
Guo, Y ;
Shen, H ;
Xiao, P ;
Xiong, DH ;
Yang, TL ;
Guo, YF ;
Long, JR ;
Recker, RR ;
Deng, HW .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2006, 91 (03) :1009-1014
[10]  
Kerstjens-Frederikse WS, 2016, GENET MED