Adult case of partial trisomy 9q
© Tiong et al; licensee BioMed Central Ltd. 2010
Received: 1 September 2009
Accepted: 16 February 2010
Published: 16 February 2010
Complete and partial trisomy 9 is the fourth most common chromosomal disorder. It is also associated with various congenital characteristics affecting the cranio-facial, skeletal, central nervous, gastrointestinal, cardiac and renal systems. Very few cases have been reported in adults. Partial trisomy 9q is also associated with short stature, poor growth and growth hormone deficiency. This is the first reported case of an extensive endocrinology investigation of short stature in trisomy 9q and the outcome of growth hormone treatment.
The case involves a 23-year-old female of pure partial trisomy 9q. The case involves a 23-year old female with pure partial trisomy 9q involving a duplication of 9q22.1 to q32, de novo, confirmed by genetic studies using fluorescene in situ hybridization (FISH) method. The diagnosis was at 6 years of age. She did not demonstrate all the congenital morphologies identified with trisomy 9q disorders especially in relation to multi-organ morphologies. There is also a degree of associated intellectual impairment. At prepuberty, she was referred for poor growth and was diagnosed with partial growth hormone deficiency. She responded very well to treatment with growth hormone and is currently living an independent life with some support.
Trisomy 9q is associated with short stature and failure to thrive. Growth hormone deficiency should be identified in cases of trisomy 9q and treatment offered. This is the first reported case of response to growth hormone replacement in partial trisomy 9.
Complete and partial trisomy 9 is the fourth most common chromosomal disorder with over 150 reported cases in the literature . It is associated with cranio-facial abnormalities, failure to thrive, pyloric stenosis, gastro-oesophageal reflux and various defects in cardiovascular, central nervous, gastrointestinal and renal systems. Growth hormone deficiency has been described with complete and partial trisomy 9. The complete form of trisomy 9 is associated with early death while very few cases of partial trisomy 9 has been reported in young adults. We present a case of partial trisomy 9q in an adult patient which is, to the best of our knowledge, the first reported case in two aspects: a novel mutation and her response to growth hormone treatment.
The female patient was delivered following an uneventful pregnancy via caesarean section for placenta praevia at 35 weeks gestation with a birth weight of 2.18 kg. The mother, aged 29 years, gave no history of exposure to radiation or mutagens. The immediate family members were healthy and had had normal development. She exhibited dysmorphic features: broad forehead, circular ears, widely spaced nipples, hypertelorism and deep set eyes. The child was noted to be developing slowly from 6 months, in particular fine and gross motor skills. She walked at the age of 30 months. Psychological assessments led to her receiving education support for learning difficulties, labile emotions and anxiety whilst attending main stream schooling. At 4 years she was growing poorly (Ht SDS -4.0, Wt SDS -4.0).
The child was fully investigated at 6 years. Genetic testing revealed additional genetic material of indeterminate source at chromosome 9q 22. The parents had normal chromosomal pattern. Pituitary function studies (including insulin tolerance test) revealed partial GH deficiency (peak GH level 15.7 U/l) whilst gonadotrophin, cortisol, and thyroid studies were normal. Renal ultrasound was normal.
Biochemical analysis of a female with partial trisomy 9q treated with growth hormone
Morning Growth hormone (mU/l)
Post exercise peak growth hormone (mU/l)
Sleep test growth hormone (mU/l)
Insulin like growth factor I (nmol/l)
Insulin growth factor BP3 (mg/l)
Follicle stimulating hormone (U/l)
Luteinizing hormone (U/l)
Thyroid stimulating hormone (mU/l)
Free thyroxine (pmol/l)
Morning cortisol (nmol/l)
Fasting glucose (mmol/l)
Oral glucose tolerance test 2 h value (mmol/l)
Clinical staging at 15 and 18 years of age
Age 15 yrs
Age 18 yrs
Breast development (stage)
Pubic hair growth (stage)
Bone age (years)
Complete trisomy 9 is associated with spontaneous abortion and those surviving pregnancy rarely live beyond childhood. Subjects with partial trisomy 9 seem to have better prognosis with few reported cases of reaching adulthood . The aetiology and risk factors for this condition are not known . Suspicion of complete and partial trisomy 9 can be identified and confirmed by chorionic venous sampling in the first trimester or later by amniocentesis .
Reduced birth weight
Failure to thrive
Other facial morphologies
High arched palate
Growth hormone deficiency
As a patient with partial trisomy 9, she survives into adulthood and as a consequence she has multiple physical and psychological challenges. The degree of deformities in trisomy 9 is associated with the degree of trisomic cell expression in various organs. Our patient had relatively minimal dysmorphic features which could be consistent with the degree of duplication of external chromosome 9 . This is the first case demonstrating the benefits of GH therapy. Trisomy 9q has been shown to have GH deficiency (Table 3) but have not been treated with GH, and although our patient only had partial GH deficiency, she responded very well. The genes for GH and chorionic somatomammotropin have been mapped to chromosome 17  and not chromosome 9. However, the LHX 3 gene, responsible for a rare syndrome with combined pituitary hormone deficiency and pathological pituitary anatomy, is located at 9q34 . Our patient did not demonstrate any other pituitary deficiency or pituitary defects on MRI, hence, the exact cause of the GH deficiency is unclear. Growth retardation is common in chromosome disorders, and is often attribute to the aneuploidy . One example of such chromosome disorder with some similarities to partial trisomy 9q is partial trisomy 1q . Since growth retardation is common in chromosome disorders, we suggest all patients with partial trisomy 9 to be evaluated for GH deficiency and GH treatment initiated generously.
Written consent was obtained from subject and her mother for the publication of this case report and accompanying images. A copy of written consent is available for review.
standard deviation scores
gonadotropin releasing hormone
follicle stimulating hormone
insulin growth factor
magnetic resonance imaging
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