Ann Pediatr Endocrinol Metab.  2023 Sep;28(3):225-230. 10.6065/apem.2244066.033.

Central precocious puberty with hypothalamic hamartoma: the first case reports of 2 siblings with different phenotypes of Seckel syndrome 5

• Park J
• Jeon M
• Maeng S
• Kwon DK
• Kim S
• Lee JE

• KMID: 2546348
• DOI: http://doi.org/10.6065/apem.2244066.033

Abstract

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.

Keyword

Central precocious puberty; Hypothalamic hamartomas; Microcephaly; Seckel syndrome; Slipped capital femoral epiphyses

Figure

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  Fig. 1. (A) A left-sided growth curve demonstrates the growth velocity of case 1. Her final adult height was 148.9 cm. (B) A right-sided growth curve shows the growth velocity of case 2. When she was 13 years old, her height had reached 144.3 cm.

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  Fig. 2. (A, B) Magnetic resonance imaging (MRI) findings of case 2. The MRI demonstrates hypothalamic hamartoma (A, arrow) and a pedunculated nonenhancing mass in the tuber cinereum that extended into the suprasellar cistern (B, arrow)

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  Fig. 3. (A) An x-ray shows right slipped capital femoral epiphysis in case 2. (B) Post fixation of both femur heads.

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  Fig. 4. (A) A pedigree shows that each compound heterozygote variant came from a parent. (B) The pathogenic variants detected in the CEP152 gene (c.2034T>G, p.Tyr678Ter* and c.314G>A, p.Trp105Ter*).

Reference

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