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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아내분비학회 Annals of Pediatirc Endocrinology & Metabolism Annals of Pediatirc Endocrinology & Metabolism 제25권 제3호
- 발행연도
- 2020
- 수록면
- 192 - 197 (6page)
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초록· 키워드
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Isolated hypogonadotropic hypogonadism (IHH) is a rare genetic disorder that is clinically and genetically heterogeneous. It is characterized by absent or incomplete pubertal development owing to an isolated defect in the production, secretion, or action of gonadotropin-releasing hormone. The incidence of IHH is estimated at 1:30,000 in males and 1:125,000 in females. Although the vast majority of IHH cases are sporadic, some X-linked recessive, autosomal dominant, and autosomal recessive modes of inheritance have been described. IHH can be classified into Kallmann syndrome with anosmia and normosmic IHH. Here, we report dizygotic twin sisters with normosmic IHH who showed short stature and absence of puberty as a result of a variant of the FGFR1 gene. They had a normal sense of smell, and brain magnetic resonance imaging (MRI) showed well-defined olfactory bulbs. The older sister and the twins' mother had cleft palate, while the younger sister did not. The mother had menarche at the age of 16 years after hormonal replacement owing to delayed puberty. Molecular analysis of the FGFR1 gene identified a missense variant c.874C>G (p.His292Asp) in the twins and their mother. Herein, we described the clinical heterogeneity observed in the 2 affected twins who carry an identical variant in the FGFR1 gene. Further studies of the effects of modifier genes and epigenetic factors on the expression of FGFR1, as well as the various clinical manifestations of its mutations, are warranted.
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참고문헌 (20)
참고문헌 신청
Bianco SD / 2009 / The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism / Nat Rev Endocrinol 5:569~576
Iovane A / 2004 / New insights in the genetics of isolated hypogonadotropic hypogonadism / Eur J Endocrinol 151(Suppl 3):U83~U88
Topaloglu AK / 2017 / Update on the genetics of idiopathic hypogonadotropic hypogonadism / J Clin Res Pediatr Endocrinol 9:113~122
Sun-Jeong Shin / 2015 / Clinical, endocrinological, and molecular characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: a single center experience / Annals of Pediatirc Endocrinology & Metabolism 20(1):27~33
Mitchell AL / 2011 / Genetic basis and variable phenotypic expression of Kallmann syndrome : towards a unifying theory / Trends Endocrinol Metab 22:249~258
Iovane A / 2004 / New insights in the genetics of isolated hypogonadotropic hypogonadism / Eur J Endocrinol 151(Suppl 3):U83~U88
Topaloglu AK / 2017 / Update on the genetics of idiopathic hypogonadotropic hypogonadism / J Clin Res Pediatr Endocrinol 9:113~122
Sun-Jeong Shin / 2015 / Clinical, endocrinological, and molecular characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: a single center experience / Annals of Pediatirc Endocrinology & Metabolism 20(1):27~33
Mitchell AL / 2011 / Genetic basis and variable phenotypic expression of Kallmann syndrome : towards a unifying theory / Trends Endocrinol Metab 22:249~258
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