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Ann Pediatr Endocrinol Metab > Accepted Articles
DOI: https://doi.org/10.6065/apem.2244066.033    [Accepted] Published online June 30, 2022.
Central precocious puberty with hypothalamic hamartoma; the first case reports of two siblings with different phenotypes in Seckel syndrome 5
Jisun Park1  , Min Jun Jeon1  , Seri Maeng2  , Dae Gyu Kwon3  , Sujin Kim1  , Jieun Lee1 
1Department of Pediatrics, Inha University Hospital, Incheon, Korea
2Department of Psychiatry, Inha University Hospital, Incheon, Korea
3Department of Orthopedics, Inha University Hospital, Incheon, Korea
Address for correspondence:  Jieun Lee
Email: anicca@inha.ac.kr
Received: February 24, 2022   Revised: May 2, 2022   Accepted: May 11, 2022
Abstract
Hypothalamic hamartomas (HHs) are non-neoplastic mass lesions located in the hypothalamus that presented with central precocious puberty (CPP), and/or gelastic seizures. Seckel syndrome (OMIM210600, SCKL) 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 brain structural abnormalities. Two siblings presented with a short stature with small head circumference and diagnosed SCKL 5. Interestingly, the younger sister had HH with CPP and a slipped capital femoral epiphysis during treatment. Herein, we report that the two siblings with the same genetic variant showed different phenotypes, which have not been reported previously as the first cases of SCKL diagnosed by genetic confirmation in Korea.
Keywords: Central precocious puberty, Hypothalamic hamartomas, Microcephaly, Seckel syndrome, Slipped capital femoral epiphyses
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