Cholestasis, Hypoglycemia and Unusual Phenotype as the Manifestations of Congenital Hypopituitarism as Part of Monosomy 18p- Syndrome

Дегтярева, А. В.; Пучкова, А. А.; Болмасова, А. В.; Меликян, М. А.

doi:10.21518/2079-701x-2018-2-233-237

Med. sov.

2018

DOI: 10.21518/2079-701x-2018-2-233-237

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Cholestasis, Hypoglycemia and Unusual Phenotype as the Manifestations of Congenital Hypopituitarism as Part of Monosomy 18p- Syndrome

А. В. Дегтярева¹,

А. А. Пучкова²,

А. В. Болмасова³

et al.

Abstract: Синдром моносомии 18р--крайне редкое заболевание (1:50000 новорожденных, родившихся живыми). Врожденный гипопитуитаризм является одним из проявлений данного синдрома в 13% случаев. Редкость данной патологии обуславливает трудности ранней диагностики врожденного гипопитуитаризма в силу недо-статочной осведомленности среди педиатров и неонатологов. В данной статье представлен клинический случай врожденного гипопитуитаризма у девочки с синдромом моносомии 18р-, который проявлялся после рождения симптомами холеста… Show more

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2021

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Cholestasis syndrome in a newborn child with congenital hypopituitarism

Kharitonova

Basargina

Evloeva

2021

RPJ

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The purpose of the work is comprehensive examination of a newborn with cholestasis syndrome to determine congenital hypopituitarism. Materials and methods. The child was hospitalized on the 30th day of his life. At admission, complaints were noted about the ictericity of the skin, low body weight gain, convulsive syndrome (history). Differential diagnosis was carried out between diseases such as: impaired liver function, against the background of the course of the infectious-inflammatory process; diseases of the liver and bile ducts of hereditary nature; congenital malformations of the bile tract; metabolic and hormonal disorders. Results. During the survey, the following deviations from the norm were obtained: in the biochemical analysis there was an increase in the level of transaminases, alkaline phosphatase, total and direct bilirubin, hypoglycemia. When evaluating the hormonal profile, an increase in the level of prolactin, thyroid hormone, a decrease in the level of T4 free, insulin, and a complete absence of cortisol were revealed. Magnetic resonance imaging (MRI) of the brain - a picture of subependymal nodes of gray matter heterotopia, ectopia of the neurophysis. Conclusions. Lowering glucose levels, especially when combined with cholestasis syndrome, may be an early but nonspecific sign of congenital hypopituitarism. Hypoglycemia in newborns occurs as a result of intrauterine insufficiency of somatotropic hormone and cortisol related to contrinsular hormones. Cortisol deficiency also contributes to the development of cholestasis syndrome by reducing the expression of tubule transport proteins that regulate bile secretion into bile tubules. In addition to studying the hormonal profile, a brain MRI is performed to verify the diagnosis. Patients with congenital hypopituitarism are characterized by the detection of characteristic signs: the picture of the “empty” or “partially empty” Turkish saddle, as well as the classic triad of symptoms: hypoplasia/pituitary leg aplasia, neurophysis ectopia, adenohypophysis hypoplasia. This clinical case demonstrates that cholestasis syndrome may lie in the debut of a more severe pathology. At the same time, early diagnosis and adequately selected hormone replacement therapy leads to a rapid cessation of life-threatening conditions and an improvement in the quality of life of the child.

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Cholestasis syndrome in a newborn child with congenital hypopituitarism

Kharitonova

Basargina

Evloeva

2021

RPJ

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Cholestasis, Hypoglycemia and Unusual Phenotype as the Manifestations of Congenital Hypopituitarism as Part of Monosomy 18p- Syndrome

Cited by 1 publication

References 8 publications

Cholestasis syndrome in a newborn child with congenital hypopituitarism

Cholestasis syndrome in a newborn child with congenital hypopituitarism

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