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Central diabetes insipidus in a newborn with deletion of chromosome 7q
1Department of Paediatrics, Prince of Wales Hospital, Chinese University of Hong Kong, Hong Kong.
Insights
Infants with chromosome 7q deletion can have midline craniofacial defects and holoprosencephaly, potentially leading to central diabetes insipidus. Genetic testing is crucial for accurate diagnosis and parental counseling.
Area of Science:
- Genetics
- Pediatrics
- Endocrinology
Background:
- Midline craniofacial defects and holoprosencephaly are complex congenital conditions.
- Chromosome 7q deletion syndrome presents a unique set of challenges.
- Central diabetes insipidus can be a presenting symptom in affected infants.
Observation:
- A male infant presented with midline craniofacial defects and holoprosencephaly.
- The infant was diagnosed with a specific deletion on chromosome 7q (pter to q34).
- Central diabetes insipidus was identified as a presenting endocrine complication at one week of age.
Findings:
- Chromosome 7q deletion (pter to q34) is associated with holoprosencephaly and midline craniofacial malformations.
- Hypothalamic-pituitary dysfunction, including central diabetes insipidus, is a significant endocrine complication in infants with this syndrome.
- Phenotypic similarities exist between infants with 7q deletion and Trisomy 13.
Implications:
- Early and thorough endocrine investigation is vital for infants with this chromosomal abnormality.
- Accurate diagnosis through chromosomal confirmation and karyotype banding is essential for appropriate patient management.
- Genetic counseling for parents is critical due to the potential for recurrence and the need for understanding the condition's genetic basis.
Abstract:
We report an infant with midline craniofacial defects and holoprosencephaly due to chromosome 46, XY, del (7) (pter-->q34) who presented at 1 week of age with central diabetes insipidus. The importance of hypothalamic-pituitary endocrine investigation in patients with this syndrome, and more generally, in patients with midline craniofacial malformation or holoprosencephaly is emphasized. As infants with chromosome 7q deletion bear close phenotypic resemblance to infants of Trisomy 13, chromosomal confirmation and karyotype banding is mandatory to establish an accurate diagnosis and for genetic counselling of their parents.