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Summary
17-BETA HYDROXYSTEROID DEHYDROGENASE
PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA
264300
OMIM = Online Medalian Inheritance of Men
752
9q22.32
rare
autosomal recessive
mutation in the HSD17B3 gene
symptoms
genitalia, ambigous
gynecomastia
hypothyroidism
infertility
testes, undescended
laboratory finding
Literature
Harvey L,et al.Prevalence, cause and diagnosis of lactose intolerance in children aged 1-5 years: a systematic review of 1995-2015 literatureAsia Pac J Clin Nutr27129-462018
Lin WX,et al.Clinical feature and molecular diagnostic analysis of the first non-caucasian child with infantile liver failure syndrome type 1Zhongguo Dang Dai Er Ke Za Zhi198913-9202017
Wang J,Pu Z, Lu ZTargeted nextÔÇægeneration sequencing reveals two novel mutations of NBAS in a patient with infantile liver failure syndromeÔÇMol Med Rep1722245-22502018
Sreekantam S,et al.How to use a controlled fast to investigate hypoglycaemiaArch Dis Child Educ Pract Ed102128-362017
Pepin V,Gagne N1, Rottembourg DRecurrent hypoglycaemia in a toddler on +¦-blocker therapyCardiol Young283511-5132018