Central precocious puberty with hypothalamic hamartoma: the first case reports of 2 siblings with different phenotypes of Seckel syndrome 5
Hypothalamic hamartomas (HHs) are nonneoplastic mass lesions located in the hypothalamus that can cause central precocious puberty (CPP) and/or gelastic seizures. Seckel syndrome 5 (OMIM210600, SCKL5) is a rare autosomal recessive genetic spectrum disorder characterized by intrauterine growth retard...
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| Format: | Article |
| Language: | English |
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Korean Society of Pediatric Endocrinology
2022-09-01
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| Series: | Annals of Pediatric Endocrinology & Metabolism |
| Subjects: | |
| Online Access: | http://e-apem.org/upload/pdf/apem-2244066-033.pdf |
| _version_ | 1797672859989966848 |
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| author | Jisun Park Minjun Jeon Seri Maeng Dae Kyu Kwon Sujin Kim Ji Eun Lee |
| author_facet | Jisun Park Minjun Jeon Seri Maeng Dae Kyu Kwon Sujin Kim Ji Eun Lee |
| author_sort | Jisun Park |
| collection | DOAJ |
| description | Hypothalamic hamartomas (HHs) are nonneoplastic mass lesions located in the hypothalamus that can cause central precocious puberty (CPP) and/or gelastic seizures. Seckel syndrome 5 (OMIM210600, SCKL5) is a rare autosomal recessive genetic spectrum disorder characterized by intrauterine growth retardation, proportionate osteodysplastic primordial dwarfism, a wide range of intellectual disability, "bird-headed" facial features, and microcephaly with various structural brain abnormalities. Two siblings presented with short stature and small head circumference and were diagnosed with SCKL 5. The younger sister had HH with CPP and experienced a slipped capital femoral epiphysis during treatment. The 2 siblings had the same genetic variant but showed different phenotypes, which has not been reported previously; this study also as presents the first cases of SCKL5 diagnosed by genetic confirmation in Korea. |
| first_indexed | 2024-03-11T21:36:18Z |
| format | Article |
| id | doaj.art-f03b1cab0d8d47be8b425bc89a4346bf |
| institution | Directory Open Access Journal |
| issn | 2287-1012 2287-1292 |
| language | English |
| last_indexed | 2024-03-11T21:36:18Z |
| publishDate | 2022-09-01 |
| publisher | Korean Society of Pediatric Endocrinology |
| record_format | Article |
| series | Annals of Pediatric Endocrinology & Metabolism |
| spelling | doaj.art-f03b1cab0d8d47be8b425bc89a4346bf2023-09-27T00:10:03ZengKorean Society of Pediatric EndocrinologyAnnals of Pediatric Endocrinology & Metabolism2287-10122287-12922022-09-0128322523010.6065/apem.2244066.033951Central precocious puberty with hypothalamic hamartoma: the first case reports of 2 siblings with different phenotypes of Seckel syndrome 5Jisun Park0Minjun Jeon1Seri Maeng2Dae Kyu Kwon3Sujin Kim4Ji Eun Lee5 Department of Pediatrics, Inha University Hospital, Incheon, Korea Department of Pediatrics, Inha University Hospital, Incheon, Korea Department of Psychiatry, Inha University Hospital, Incheon, Korea Department of Orthopedics, Inha University Hospital, Incheon, Korea Department of Pediatrics, Inha University Hospital, Incheon, Korea Department of Pediatrics, Inha University Hospital, Incheon, KoreaHypothalamic hamartomas (HHs) are nonneoplastic mass lesions located in the hypothalamus that can cause central precocious puberty (CPP) and/or gelastic seizures. Seckel syndrome 5 (OMIM210600, SCKL5) is a rare autosomal recessive genetic spectrum disorder characterized by intrauterine growth retardation, proportionate osteodysplastic primordial dwarfism, a wide range of intellectual disability, "bird-headed" facial features, and microcephaly with various structural brain abnormalities. Two siblings presented with short stature and small head circumference and were diagnosed with SCKL 5. The younger sister had HH with CPP and experienced a slipped capital femoral epiphysis during treatment. The 2 siblings had the same genetic variant but showed different phenotypes, which has not been reported previously; this study also as presents the first cases of SCKL5 diagnosed by genetic confirmation in Korea.http://e-apem.org/upload/pdf/apem-2244066-033.pdfcentral precocious pubertyhypothalamic hamartomasmicrocephalyseckel syndromeslipped capital femoral epiphyses |
| spellingShingle | Jisun Park Minjun Jeon Seri Maeng Dae Kyu Kwon Sujin Kim Ji Eun Lee Central precocious puberty with hypothalamic hamartoma: the first case reports of 2 siblings with different phenotypes of Seckel syndrome 5 Annals of Pediatric Endocrinology & Metabolism central precocious puberty hypothalamic hamartomas microcephaly seckel syndrome slipped capital femoral epiphyses |
| title | Central precocious puberty with hypothalamic hamartoma: the first case reports of 2 siblings with different phenotypes of Seckel syndrome 5 |
| title_full | Central precocious puberty with hypothalamic hamartoma: the first case reports of 2 siblings with different phenotypes of Seckel syndrome 5 |
| title_fullStr | Central precocious puberty with hypothalamic hamartoma: the first case reports of 2 siblings with different phenotypes of Seckel syndrome 5 |
| title_full_unstemmed | Central precocious puberty with hypothalamic hamartoma: the first case reports of 2 siblings with different phenotypes of Seckel syndrome 5 |
| title_short | Central precocious puberty with hypothalamic hamartoma: the first case reports of 2 siblings with different phenotypes of Seckel syndrome 5 |
| title_sort | central precocious puberty with hypothalamic hamartoma the first case reports of 2 siblings with different phenotypes of seckel syndrome 5 |
| topic | central precocious puberty hypothalamic hamartomas microcephaly seckel syndrome slipped capital femoral epiphyses |
| url | http://e-apem.org/upload/pdf/apem-2244066-033.pdf |
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