Endocrine Abstracts

JOINT2549

Juberg Marsidi syndrome (ORPHA:93972) is a rare X-linked recessive disorder characterized by severe intellectual disability, growth failure, sensorineural deafness, and hypogonadism. The full picture of the syndrome is revealed in men, but in the presence of a heterozygous variant of the HUWE1 gene in women, the symptoms may be milder. The case of a three-year-old girl who, in addition to with Juberg-Marsisi syndrome and panhypopituitarism was described in presented report. The child was born from 1st pregnancy, complicated by threatened miscarriage, born prematurely at 33 weeks’ gestation, with a body weight of 1860 g. The adaptation period was complicated by bleeding into the lateral ventricles. Psychomotor development was delayed, which was explained by prematurity and initially increased, followed by decreased muscle tone. At the age of 10 months, due to delayed psychomotor development, the girl was consulted by an endocrinologist for the first time. Secondary hypothyroidism was diagnosed and treatment with levothyroxine was initiated. The physical examination revealed significant growth deficiency, global decreased muscle tone, abnormal body proportions in the form of shortened long bones of the limbs, small feet, varus deformity of the lower legs, as well as dysmorphic facial features: high forehead, hypotelorism, small palpebral fissures, and flat nasal bridge. There was a history of patent foramen ovale. The hearing test was normal. Despite the girl’s multi-profile intensive rehabilitation and satisfactory correction of thyroid function, a significant delay in psychomotor development is still observed (the child still does not walk at the age of three years, has started crawling, sits up independently from about 24 months of age), and speech development is significantly delayed (speaks single syllables). Episodes of "suspension" were observed in the child, especially during prolonged fasting. The glycemic profile showed glucose concentrations <60 mg/dl several times. Adrenal function was normal. The girl was diagnosed with somatotropin hypopituitarism and treatment with growth hormone was requested. In summary, the girl, apart from the symptoms of the genetic syndrome, presented typical symptoms resulting from multihormonal hypopituitarism, which should result in an early diagnosis of pituitary function and implementation of appropriate treatment. Treatment with growth hormone in a child with somatotropin hypopituitarism and co-occurring decreased muscle tone may contribute not only to the promotion of growth, but also to increased muscle strength.