Background: Thyroid dysfunction (TD) was usually described in hematopoietic stem cell transplantation (HSCT) recipients who were given total body irradiation (TBI) in the conditioning regimen. Because previous studies have reported discrepant results regarding the presence of long-term thyroid complications in HSCT survivors following chemotherapy-only conditioning, we investigated the frequency of thyroid abnormalities in a series of children treated with HSCT for different disorders without TBI as part of the conditioning protocol. Methods: We compared thyroid-stimulating hormone, free thyroxine, total triiodothyronine (TT3), anti-peroxidase (TPO Ab) and anti-thyroglobulin antibodies and thyroid volume z-score in 28 HSCT survivors and 16 healthy subjects matched for age and sex. Results: HSCT recipients had a higher frequency of TD and thyroid complications in total, including TD and euthyroid Hashimoto thyroiditis, compared to the control group. Patients transplanted for Hodgkin lymphoma (HL) were more likely to develop a thyroid complication compared to patients with non-malignant hematologic diseases and leukemia patients. BEAM (carmustine, etoposide, citarabin and melphalan) conditioning compared to busulfan (Bu) and fludarabine (Flu)-based regimens and autologous compared to allogenic grafting were associated with a higher prevalence of TD in our study. HSCT survivors had higher mean serum TT3 levels. A multivariate analysis revealed that autologous (auto)-HSCT recipients had higher mean serum titers of TPO Ab compared to allogenic (allo)-HSCT recipients and controls and the mean thyroid volume z-score was significantly higher in controls compared to auto-/allo-HSCT survivors. Conclusions: We identified a 35.7% prevalence of thyroid abnormalities, emphasizing the need for a long-term surveillance of thyroid function and morphology even in this group of patients who were not exposed to TBI.

Key Clinical Message: A few cases of thyroid eye disease following alemtuzumab therapy have been described in patients with multiple sclerosis. Our patient is the first case of Graves’ orbitopathy after alemtuzumab conditioning for hematopoietic stem cell transplantation.

B-cell precursor acute lyphoblastic leukemia (ALL) is a common pediatric malignancy and patients may have significant benefits from monoclonal antibodies therapy with increased survival rates. Positive CD20 expression is identified in about half of these patients and its presence may serve as a prognostic factor in disease evolution. We performed a retrospective study including 114 patients diagnosed with B-ALL and evaluated the expression of CD20 through flow cytometry at diagnosis and on day 15. Additional immunophenotypic analyses as well as cytogenetic and molecular genetic analyses were also performed. We observed an increase in the mean fluorescence intensity (MFI) of CD20 between diagnosis—1.9 (1.2–3.26) and day 15: 6.17 (2.14–27.4), (p < 0.0001). Furthermore, we assessed that both diagnosis and day 15 CD20 MFI had an impact on RFS and OS, respectively, for cut-off values of >8.08 at diagnosis and >28.65 at day 15. In conclusion, CD20 expression appears to be a poor prognostic feature of B-ALL in pediatric patients. In this study, stratification of the outcome by the intensity of CD20 has implications concerning the allocation to rituximab-based chemotherapy and may offer new, potentially useful information for pediatric patients with B-ALL.

Outcomes after hematopoietic stem cell transplantation (HSCT) for patients with both malignant and nonmalignant diseases have improved significantly in recent years. However, the endocrine system is highly susceptible to damage by the high-dose chemotherapy and/or irradiation used in the conditioning regimen before HSCT. Ovarian failure and subsequent infertility are frequent complications that long-term HSCT survivors and their partners face with a negative impact on their QoL. Several meta-analyses of randomized clinical trials showed that gonadotropin-releasing hormone agonist (GnRHa) administration in advance of starting standard chemotherapy decreases the risk of gonadal dysfunction and infertility in cancer patients, but GnRHa use for ovarian protection in HSCT patients is not fully determined. In this review we are discussing the potential preservation of ovarian function and fertility in pubertal girls / premenopausal women who undergo HSCT using GnRHa in parallel with conditioning chemotherapy, focusing on the current data available and making some special remarks regarding the use of GnRHa.

MIRAGE syndrome is a recently described congenital condition characterized genetically by heterozygous gain-of-function missense mutations in the growth repressor sterile alpha domain containing 9 (SAMD9) located on the arm of chromosome 7 (7q21.2). The syndrome is rare and is usually diagnosed in newborns and children with myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy, hence the acronym MIRAGE. The aims of this paper are (1) to present fetal ultrasound features in a case where MIRAGE syndrome was diagnosed prenatally and (2) to review the existing literature records on prenatal manifestations of MIRAGE syndrome. In our case, the fetus had severe early fetal growth restriction (FGR) with normal Doppler studies, atypical genitalia, oligohydramnios, and hyperechogenic bowel at the routine mid-gestation anomaly scan. Amniocentesis excluded infections and numeric or structural chromosomal abnormalities while whole exome sequencing (WES) of the fetal genetic material identified the specific mutation. Targeted testing in parents was negative, suggesting the “de novo” mutation in the fetus. We could not identify other specific case reports in the literature on the prenatal diagnosis of MIRAGE syndrome. In cases reported in the literature where the diagnosis of MIRAGE syndrome was achieved postnatally, there are mentions related to the marked FGR on prenatal ultrasound. Severe early-onset FGR with no other apparent cause seems to be a central prenatal feature in these babies, and WES should be offered, especially if there are other structural abnormalities. Prenatal diagnosis of MIRAGE syndrome is possible, allowing for reproductive choices, improved counseling of parents, and better preparation of neonatal care.

Introduction: Cardiovascular disease is the most common cause of death in Turner syndrome (TS) for which arterial hypertension has a direct influence and is a key modifiable risk factor. Objective: To investigate the prevalence and patterns of hypertension diagnosis and management in adult patients with TS who are registered in a large international multicentre database (TS-HTN study). Methods: Retrospective multicentre observational study of patients aged ≥18 years included in the I-TS (International-TS) registry (2020–2022), using registry and participating centre-collected data. Results: Twelve international centres participated, including 182 patients with a median age of 28 years (IQR 23–37.2). Arterial hypertension was recorded in 13.2% (n = 24). The median age at hypertension diagnosis was 27 years (range 10–56), with 92% aged less than 50 years at diagnosis. The majority (75%) were classified as primary hypertension (n = 18). In binomial regression analysis, higher body mass index was the only parameter significantly associated with the occurrence of hypertension (B = 1.487, P = 0.004). Among patients with aortic disease (n = 9), 50% had systolic BP ≥ 130 mmHg and 66.6% had diastolic BP ≥ 80 mmHg during the last clinic review. Angiotensin-converting enzyme inhibitors were the most common (n = 16) medication prescribed, followed by angiotensin receptor blockers (n = 6), beta-blockers (n = 6) and calcium channel blockers (n = 6). Conclusions: Arterial hypertension is common in TS and occurs at a young age. Overweight/obesity was a notable risk factor for hypertension. The frequency of suboptimal BP control among high-risk patients highlights the importance of increased awareness and TS-specific consensus guidance on management.