ObjectiveMost girls and women with Turner syndrome (TS) require estrogen replacement therapy (ERT) to initiate or maintain pubertal development. Most likely, the most fundamental effect of ERT in hypogonadism is the promotion of uterine growth. The optimal ERT model is still being discussed. The present study aimed to assess uterine size in girls with TS in the prepubertal state during and after the induction of puberty and compare it to a healthy population.MethodsThe analysis encompassed 40 TS girls. The prepubertal and postpubertal control groups contained 20 healthy girls each. All patients with TS were treated with 17-ß estradiol. Uterine imaging was performed with two-dimensional (2D) transabdominal ultrasound. The uterine volume (UV) and fundocervical antero-posterior ratio (FCR) were calculated in patients with TS before the pubertal induction, after 6-12 months of estrogen replacement therapy (ERT), after ≥ 36 months of ERT or ≥ 12 months after menarche.ResultsThe average age of TS patients at estrogen introduction and at the last control visit, when the uterus was considered mature, was 12.9 years and 16.1 years, respectively. The UV in patients with TS at the beginning of ERT was 1.55 ± 1.22 cm3 and was not significantly different from the UV in the prepubertal controls. The mature UV in patients with TS was 31.04 ± 11.78 cm3 and was significantly smaller than the UV of the postpubertal controls (45.68 ± 12.51 cm3, p<0.001). The FCR in girls with TS did not differ significantly from that in the prepubertal and postpubertal control groups, respectively. No prognostic factors could be established for the final UV. By the last control visit, thelarche had advanced in most patients to Tanner 4 and 5 (37.5% and 40%, respectively).ConclusionsBefore the onset of ERT, patients with TS have a uterus similar in size to that in prepubertal healthy girls. Pubertal induction in patients with TS causes a significant increase in the UV that is detectable after 6-12 months of ERT. The mature uterus is smaller in patients with TS than in the age-matched healthy population.
Endogenous Cushing’s syndrome (CS) is associated with increased morbidity and mortality. Early diagnosis and initiation of therapy are essential, but effective treatment remains a challenge. In a long-term follow-up, biochemical control of hypercortisolemia, especially when severe, is difficult to achieve. Life-threatening hypercortisolemia is difficult to control due to the limitations of pharmacotherapy, including its side effects, and may require etomidate infusion in the intensive care unit (ICU) to rapidly lower cortisol levels. The effectiveness of hypercortisolemia management can be increased by a dual blockade of cortisol production. We report the efficacy, safety, and tolerability of combined therapy with two steroidogenesis inhibitors, etomidate, and osilodrostat, in a 32-year-old woman diagnosed with severe ACTH-dependent hypercortisolemia, subsequently maintaining a stable level of cortisol with osilodrostat monotherapy. This approach enabled achievement of relatively rapid control of the hypercortisolemia while using an etomidate infusion and concomitant increasing doses of oral osilodrostat applying a “titrations strategy.” Our experience shows that it is worth taking advantage of the synergistic anticortisolic action of etomidate with osilodrostat.
Background: Central diabetes insipidus (CDI) is a rare disorder in the pediatric population resulting from antidiuretic hormone (ADH) deficiency and caused by several underlying conditions. It is characterized by the excessive production of dilute urine and manifests with polyuria, nocturia, and polydipsia. An appropriate investigation requires a detailed medical history, physical examination, biochemical evaluation (including fluid deprivation test, potentially followed by desmopressin test), and neuroimaging. The diagnosis of CDI is often challenging, especially the underlying condition. The patients sometimes need long-term follow-up to establish the proper final diagnosis.
This paper highlights the diverse clinical presentation of children with CDI, diagnostic difficulties among patients presenting with polyuria and polydipsia, and the need for an individual approach in each case. The article also reviews the etiology, symptoms, diagnostic work-up, and management of CDI.
Case Presentation: We present four pediatric patients (aged 3-13.5 years) diagnosed with CDI of different etiology; one due to congenital anomaly - septo-optic-dysplasia (SOD) and three due to acquired processes such as Langerhans cell histiocytosis (LCH) and germ cell tumor (GCT) in two patients.
Conclusions: CDI was the first manifestation of a tumor or granuloma in all presented patients with acquired pathology. Due to the presented course of illness, it may be concluded, the coexistence of other pituitary hormone deficiencies at initially recognized idiopathic CDI should suggest a more complicated diagnostically problem. Case with a delayed diagnosis with SOD at the age of 13.5 years and case with GCT, where from the CDI diagnosis to the occurrence of pathological change in pituitary stalk 1.5 years have passed, highlight the need for a high clinical suspicion in patients with CDI.
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