Molecular characterization in a case of isolated growth hormone deficiency and further prenatal diagnosis of an unborn sibling

Ruchi Nadar; Kavita Khatod; Nikhil Phadke; Chaitanya Datar; Sujata Vaidya; Anuradha Khadilkar; Vaman Khadilkar

doi:10.4103/0971-6866.124380

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CASE REPORT

Year : 2013 \| Volume : 19 \| Issue : 4 \| Page : 475-478

Molecular characterization in a case of isolated growth hormone deficiency and further prenatal diagnosis of an unborn sibling Ruchi Nadar¹, Kavita Khatod², Nikhil Phadke², Chaitanya Datar³, Sujata Vaidya³, Anuradha Khadilkar⁴, Vaman Khadilkar¹ ¹ Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, Camp, Pune, Maharashtra, India ² GenePath Dx, Causeway Healthcare, Phadke Hospital, Shivaji Nagar, Pune, Maharashtra, India ³ Sahyadri Medical Genetics and Tissue Engineering Facility, Shivajinagar, Pune, Maharashtra, India ⁴ Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, Camp; GenePath Dx, Causeway Healthcare, Phadke Hospital, Shivaji Nagar, Pune, Maharashtra, India Correspondence Address: Anuradha Khadilkar Cowasji Jehangir Medical Research Institute, Lower ground floor, Block V, Jehangir Hospital, 32, Sassoon Road, Pune-411 001, Maharashtra India Source of Support: None, Conflict of Interest: None DOI: 10.4103/0971-6866.124380

Familial isolated growth hormone deficiency (GHD) type 1 is characterized by an autosomal recessive pattern of inheritance with varying degrees of phenotypic severity. We report a proband, with isolated GHD (IGHD) with very early growth arrest and undetectable levels of GH. Homozygous complete deletion of the GH1 gene was identified by real-time/quantitative polymerase chain reaction (RT/q-PCR) and confirmed by an independent molecular genetic method; the multiplex ligation-dependent probe amplification (MLPA) technique. Prenatal diagnosis was offered for the subsequent pregnancy in the mother of our proband. Identical heterozygous deletion of the GH1 gene was detected in both parents. The fetus had a similar homozygous deletion of the GH1 gene. We thus report a unique case with a confirmed mutation in GH1 gene in the proband followed by prenatal detection of the same mutation in the amniotic fluid which to our knowledge hitherto has not been documented from India.



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