SUN-064 Diversity of Endocrine Function in Patients with CHARGE Association
| Autor: | Shintaro Terashita, Tomoko Ota, Yasuhiro Naiki, Masaaki Matsumoto, Tomoe Yamaguchi, Erika Uehara, Reiko Horikawa, Tomohiro Nagata, Keisuke Yoshii |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Genetics
Pediatric Puberty Transgender Health and General Endocrine Endocrinology Diabetes and Metabolism Association (object-oriented programming) media_common.quotation_subject Charge (physics) Biology Pediatric Endocrinology Endocrine system In patient Function (biology) AcademicSubjects/MED00250 Diversity (politics) media_common |
| Zdroj: | Journal of the Endocrine Society |
| ISSN: | 2472-1972 |
| Popis: | Context: CHARGE association consists of congenital malformation of Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies and/or deafness. It is often caused by CHD7 gene mutation, which also one of the causative gene for Kallmann syndrome. The endocrine dysfunction in CHARGE association has been reported but not fully understood. Objective: To clarify the mode of growth and frequency of endocrine dysfunction in CHARGE association. Subjective: We investigated the characteristics of growth and puberty, and endocrine function in 23 children (15 males and 8 females, 0~20 years old) with CHARGE association. Results: The birthweight was from -2.74 to +1.14 SDS and the birth length was from -2.86 to +1.10 SDS. 5 children were born small for gestational age. The height below -2SDS in 18 children. GH secretion was evaluated in 11 children with short stature (-9 to -2.3SD) except for one with normal height (-0.3 SD in 6 years old girl); 5 children including one with normal stature were revealed to have GH deficiency. One short girl with GH deficiency previously showed normal GH response to provocation test at 1 year old but has developed to be GH deficient at 7 years old. Gonadotropin-releasing hormone loading tests were performed in 7 males and 3 females. Nine out of 10 children showed hypogonadotropic hypogonadism; one girl showed hypergonadotropic hypogonadism, whose ovaries were undetectable on ultrasound. Human chorionic gonadotrophin (HCG) tests were performed in 6 males with micropenis and/or cryptorchidism. Peak testosterone levels after HCG stimulation were from 0 to 6.99 ng/ml. 4 patients showed peak testosterone levels less than 1 ng/ml. Four boys showed combined gonadotropin deficiency and primary hypogonadism. Conclusions: Our data showed the diversity of endocrine function in children with CHARGE association. GH deficiency can be developed over time. Hypogonadotropic hypogonadism is common, while isolated/combined primary hypogonadism should be taken into consideration in children with CHARGE association. |
| Databáze: | OpenAIRE |
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