vspВопросы современной педиатрииCurrent Pediatrics1682-55271682-5535Издательство «ПедиатрЪ»10.15690/vsp.v23i6.2833vsp-3660Research ArticleКЛИНИЧЕСКОЕ НАБЛЮДЕНИЕCLINICAL OBSERVATIONSСиндром CHARGE глазами детского эндокринолога: клинический случайCHARGE Syndrome from Pediatric Endocrinologist Perspective: Clinical Casehttps://orcid.org/0000-0001-6472-7442КокореваК. Д.KokorevaKristina D.

Кокорева Кристина Дмитриевна - кандидат медицинских наук, детский эндокринолог консультативно-диагностического центра; ассистент кафедры детской эндокринологии и диетологии 

117292, Москва, ул. Дмитрия Ульянова, д. 11

 тел.: +7 (915) 477-67-55

Moscow

kristinadk@mail.ruhttps://orcid.org/0000-0001-6470-6318ВолеводзН. Н.VolevodzNatalia N.

Москва

Moscow

ФГБУ «НМИЦ эндокринологии» Минздрава России; ГБУЗ МО «МОНИКИ им. М.Ф. Владимирского»РоссияEndocrinology Research Centre; Moscow Regional Research and Clinical Institute n.a. M.F. VladimirskyRussian Federation202405012025236509515Copyright © Кокорева К.Д., Волеводз Н.Н., 20242024Кокорева К.Д., Волеводз Н.Н.Kokoreva K.D., Volevodz N.N.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://vsp.spr-journal.ru/jour/article/view/3660

Обоснование. Синдром CHARGE — заболевание с аутосомно-доминантным типом наследования и популяционной частотой 1 случай на 8500–15000 новорожденных. Причина заболевания — изменение нуклеотидной последовательности гена СHD7. «Большими» критериями синдрома являются колобома глаз, атрезия или стеноз хоан, дефекты средней линии (расщелина губы и/или неба) и врожденные пороки наружного, среднего и внутреннего уха. Синдром CHARGE характеризуется выраженным клиническим полиморфизмом, что усложняет диагностику заболевания. Описание клинического случая. Мальчик, возраст 5 лет, направлен к эндокринологу по поводу одностороннего крипторхизма с рождения. При осмотре обнаружены асимметрия лица, нарушение строения ушных раковин, гипоплазированная мошонка и отсутствие одного яичка в мошонке. Также отмечены колобома сетчатки с двусторонней туго ухостью, оперированная расщелина губы и неба, трудности с кормлением, жеванием и глотанием, задержка умственного развития и паралич лицевого нерва. Клинически диагностирован синдром CHARGE, впоследствии подтвержденный молекулярно-генетическим исследованием: выявлена ранее описанная патогенная гетерозиготная нуклеотидная замена chr8:60838202C>T (HG38) в экзоне 19 гена СHD7. Заключение. Проявления синдрома CHARGE разнятся от пациента к пациенту, в связи с чем необходимо молекулярно-генетическое подтверждение диагноза. Пациенты с синдромом CHARGE требуют наблюдения междисциплинарной команды, а к эндокринологу обычно обращаются с жалобами на задержку роста, задержку полового развития, крипторхизм и гипоплазированные наружные половые органы. В допубертатном возрасте заподозрить гипогонадотропный гипогонадизм у мальчика с синдромом CHARGE возможно на основании сочетания одно- или двустороннего крипторхизма, гипоплазированных наружных половых органов и низкой концентрации ингибина B.

Background. CHARGE syndrome is an autosomal dominant disease with population frequency of 1 case per 8500–15,000 newborns. The cause of this disease is nucleotide changes in the CHD7 gene. The “major” criteria for the syndrome are eye coloboma, choanal atresia or stenosis, midline defects (cleft lip and/or palate), and congenital malformations of outer, middle, and inner ear. CHARGE syndrome is characterized by significant clinical polymorphism complicating its diagnosis. Clinical case description. The boy, 5 years old, has been referred to endocrinologist due to unilateral cryptorchidism since birth. We have revealed face asymmetry, auricles abnormalities, hypoplastic scrotum and absence of one testicle in the scrotum during examination. Retinal coloboma, bilateral hearing loss, operated cleft lip and palate, difficulties with feeding, chewing, and swallowing, mental retardation and facial paralysis were also noted. CHARGE syndrome was clinically diagnosed, and later it was confirmed by molecular genetic testing: previously described pathogenic heterozygous nucleotide variant chr8:60838202C>T (HG38) in exon 19 of the CHD7 gene was revealed. Conclusion.  Manifestations of CHARGE syndrome vary from patient to patient, thus, molecular genetic confirmation of the diagnosis is crucial. Patients with CHARGE syndrome require follow-up by multi-disciplinary team, and the endocrinologist is usually admitted with complaints on growth retardation, delayed puberty, cryptorchidism and hypoplastic external genitalia. It is possible to suspect hypogonadotropic hypogonadism in a boy with CHARGE syndrome at pre-pubertal age in case of its combination with one- or bilateral cryptorchidism, hypoplastic external genitalia and low inhibin B level.

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The authors declare that there are no conflicts of interest present.