Central precocious puberty with hypothalamic hamartoma; the first case reports of two siblings with different phenotypes in Seckel syndrome 5

Park, Jisun; Jeon, Min Jun; Maeng, Seri; Kwon, Dae Gyu; Kim, Sujin; Lee, Jieun

doi:.0.0.0

Ann Pediatr Endocrinol Metab > Accepted Articles

Case report

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

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