Priekšlaicīga pubertāte Tērnera sindroma pacientei
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Date
2021
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Rīgas Stradiņa universitāte
Rīga Stradiņš University
Rīga Stradiņš University
Abstract
Pētnieciskajā darbā aprakstīts un analizēts pirmais klīniskais gadījums Latvijā, kad pacientei ar diagnosticētu Tērnera sindromu (TS), mozaicisma variantu (45,X0/46,XX) sākusies priekšlaicīga pubertāte 7 gadu un 10 mēnešu. vecumā. Priekšlaicīga pubertāte nav raksturīga Tērnera sindromam, jo galvenās TS klīniskās pazīmes ir mazs augums un aizkavēta pubertāte. Zinātniskajā literatūrā aprakstīti tikai daži citi klīniskie gadījumi, kad pacientēm ar Tērnera sindroma diagnozi pubertāte iestājusies priekšlaicīgi vai spontāni.
Paciente pirmo reizi vērsusies pie bērnu endokrinologa 6 gadu vecuma sakarā ar sūdzībām par rekurentiem otītiem, pacientei novērota arī izmainīta ķermeņa proporcija, mazs augums, palielināts svars, nepareiza stāja, saīsināts labās kājas garums, aizkavēta runas attīstība.
Objektīvi izmeklējot, pacientes svars bija 25 kg, atbilst +1 SD, augums 110 cm, kas atbilst -1 SD. Aprēķinot ĶMI, iegūts rezultāts 20,7 kg/m2, izvērtējot to procentiļu līknē, tas atbilda 98. procentilei jeb vairāk nekā +3 SD un ir definējams kā aptaukošanās.
Sakarā ar augšanas aizturi, skeleta deformāciju, atšķirīgu kāju garumu un valodas aizturi pacientei veikta kariotipa noteikšana, kur tiek apstiprināts Tērnera sindroms, mozaicismsa variants 45,X0/46,XX.
7 gadu un 10 mēnešu vecumā paciente vērsusies pie bērnu ginekologa sakarā ar sekundāro dzimumpazīmju attīstību – krūts dziedzeru palielināšanos, pubis rajona apmatojumu. Novērojot priekšlaicīgas pubertātes pazīmes, tiek apšaubīta iepriekš noteiktā Tērnera sindroma diagnoze pacientei. Sakarā ar to pacientei atkārtoti veikta kariotipa noteikšana un atkārtoti tiek apstiprināta Tērnera sindroma diagnoze, mozaicisma variants. Ar priekšlaicīgu sekundāru dzimumpazīmju sākšanos meitenei uzsākta izmeklēšana un diferenciāla diagnostika, lai precizētu pubertātes iespējamu centrālu vai perifēru izcelsmi.
11 gadu un 2 mēnešu vecumā pacientes svars bija 54 kg (+1,5 SD), augums 135 cm (-1,5 SD), ĶMI 29,6 kg/m2, kas atbilst 99. procentilei vai +3 SD. Pēc bērna vecuma un dzimuma, ĶMI definējams kā aptaukošanās.
Pacienti sakarā ar Tērnera sindroma diagnozi novēro bērnu endokrinologs un bērnu ginekologs. Ņemot vērā, ka 6 gadu vecumā nebija novērota klīniski nozīmīga augšanas aizture, jo auguma deficīts bija tikai -1 SD un augšanas temps gada laikā bija vidēji +7,5cm, kas pēc augšanas tempa līknēs bija virs +2 SD, pacientei netika uzsākta augšanas hormona terapija.
Pacientei novērojoties pie ginekologa un bērnu endokrinologa, 11 gadu 2 mēnešu vecumā sekundāras dzimumpazīmes dinamikā neprogresē un pakāpeniski pieaug auguma deficīts.
Aktuālais jautājums ir par terapijas nepieciešamības uzsākšanu ar augšanas hormonu un tās potenciālo efektivitāti, kā arī ietekmi uz kāju asimetriju. Tāpat vērtējama arī estrogēnu terapijas uzsākšana, lai nodrošinātu pilnvērtīgu pubertātes norisi.
Ņemot vērā, ka šis ir pirmais gadījuma Latvijā, nepieciešams multidisciplināras komandas lēmums par pacientes tālāku ārstēšanu un izmeklēšanas taktiku.
The research describes and analyzes the first clinical case in Latvia when a patient with diagnosed Turner syndrome (TS), mosaic variant (45,X0/46,XX) and precocious puberty at the age of 7 years and 10 months. Precocious puberty is not typical for Turner syndrome, as the main clinical signs of TS are short stature and delayed puberty. Only few other clinical cases of precocious puberty in patients with a diagnosis of Turner syndrome have been reported in the scientific literature. The patient referred to a pediatric endocrinologist for the first time at 6 years due to complaints of recurrent otitis, the patient also had altered body proportions, small height, increased weight, changed posture, shortened right leg length and delayed speech development. After systemic examination the patient weight was 25 kg, corresponding to +1 SD, height 110 cm, corresponding to -1 SD. After calculating the BMI, the result was 20.7 kg/m2, evaluated in the percentile chart, corresponding to the 98th percentile or more than +3 SD and can be defined as obesity. Due to delayed growth, skeletal deformity, different leg lengths, and speech delay, the patient underwent karyotyping, where Turner syndrome, mosaic variant 45,X0/46,XX was confirmed. At 7 years and 10 months the patient turned to a pediatric gynecologist due to the development of secondary sex characteristics - breast enlargement and pubic hair. Observing signs of premature puberty called into question the patient's preexisting diagnosis of TS. Due to this, the patient had been rekaryotyped and the diagnosis of TS, mosaicism variant, was reconfirmed. With the early onset of secondary puberty signs, the girl underwent an examination and differential diagnostics to clarify the possible central or peripheral origin of puberty. At 11 years and 2 months, the patient weighed 54 kg (+1.5 SD), height reached 135 cm (-1.5 SD), BMI 29.6 kg/m2, corresponding to the 99th percentile or +3 SD. BMI was defined as obesity. Due to the diagnosis TS patient was followed by pediatric endocrinologist and pediatric gynecologist. Given that no clinically significant delay of growth was observed at 6 years, the height deficit was only -1 SD and the growth rate during the year was + 7.5 cm, which according to the growth rate charts was +2 SD, growth hormone therapy was not initiated. Under the supervision of a pediatric gynecologist and pediatric endocrinologist it is established that 11 years and 2 months the development of secondary puberty signs does not progress, and the height deficit gradually increases. The issue is the initiation of treatment with growth hormone and its potential effectiveness, as well as its effect on the asymmetrical leg lengths. The initiation of estrogen therapy should also be evaluated to ensure the full course of puberty. Considering that this is the first case in Latvia, a decision of a multidisciplinary team on the patient's further treatment and examination tactics is required.
The research describes and analyzes the first clinical case in Latvia when a patient with diagnosed Turner syndrome (TS), mosaic variant (45,X0/46,XX) and precocious puberty at the age of 7 years and 10 months. Precocious puberty is not typical for Turner syndrome, as the main clinical signs of TS are short stature and delayed puberty. Only few other clinical cases of precocious puberty in patients with a diagnosis of Turner syndrome have been reported in the scientific literature. The patient referred to a pediatric endocrinologist for the first time at 6 years due to complaints of recurrent otitis, the patient also had altered body proportions, small height, increased weight, changed posture, shortened right leg length and delayed speech development. After systemic examination the patient weight was 25 kg, corresponding to +1 SD, height 110 cm, corresponding to -1 SD. After calculating the BMI, the result was 20.7 kg/m2, evaluated in the percentile chart, corresponding to the 98th percentile or more than +3 SD and can be defined as obesity. Due to delayed growth, skeletal deformity, different leg lengths, and speech delay, the patient underwent karyotyping, where Turner syndrome, mosaic variant 45,X0/46,XX was confirmed. At 7 years and 10 months the patient turned to a pediatric gynecologist due to the development of secondary sex characteristics - breast enlargement and pubic hair. Observing signs of premature puberty called into question the patient's preexisting diagnosis of TS. Due to this, the patient had been rekaryotyped and the diagnosis of TS, mosaicism variant, was reconfirmed. With the early onset of secondary puberty signs, the girl underwent an examination and differential diagnostics to clarify the possible central or peripheral origin of puberty. At 11 years and 2 months, the patient weighed 54 kg (+1.5 SD), height reached 135 cm (-1.5 SD), BMI 29.6 kg/m2, corresponding to the 99th percentile or +3 SD. BMI was defined as obesity. Due to the diagnosis TS patient was followed by pediatric endocrinologist and pediatric gynecologist. Given that no clinically significant delay of growth was observed at 6 years, the height deficit was only -1 SD and the growth rate during the year was + 7.5 cm, which according to the growth rate charts was +2 SD, growth hormone therapy was not initiated. Under the supervision of a pediatric gynecologist and pediatric endocrinologist it is established that 11 years and 2 months the development of secondary puberty signs does not progress, and the height deficit gradually increases. The issue is the initiation of treatment with growth hormone and its potential effectiveness, as well as its effect on the asymmetrical leg lengths. The initiation of estrogen therapy should also be evaluated to ensure the full course of puberty. Considering that this is the first case in Latvia, a decision of a multidisciplinary team on the patient's further treatment and examination tactics is required.
Description
Medicīna
Medicine
Veselības aprūpe
Health Care
Medicine
Veselības aprūpe
Health Care
Keywords
Tērnera sindroms. Priekšlaicīga pubertāte. Augšanas hormons., Turner syndrome. Precocious puberty. Growth hormone.