Gonadal Y-chromosome mosaicism with 45, X Turner syndrome complicated with bilateral HCG-secreting gonadoblastoma.

We report a rare case of bilateral HCG-secreting gonadoblastomas (Gb) in a 5.25-year-old girl of 45, X Turner syndrome (TS) with gonadal Y chromosome mosaicism. The clinical data were summarized, and the literatures were reviewed. The patient had enlarged breasts for 2 years and 3 months, with elevated ß-HCG of blood found for 8 months. The level of ß-HCG of cerebrospinal fluid, cranial MRI, chest and abdominal CT, and pelvic MRI were normal. After surgical gonad exploration, biopsy and excision, gonad venous blood hormone examination and SRY gene detection of gonad tissue, the diagnosis was confirmed as HCG-secreting Gb (bilateral) and TS (45, X) with gonad Y chromosome mosaicism. The patient received 4 courses of chemotherapy, and regular outpatient follow-up. At 9 months after gonadectomy, there was no clinical, laboratory, or radiological evidence of recurrence. We reported a nonclassical case of 45, X Turner syndrome (TS) with gonadal Y chromosome mosaicism, who presented with breast development as the first manifestation and then virilization due to bilateral HCG-secreting gonadoblastomas. Detection of serum ß-HCG and AFP is requisite for the diagnosis of precocious puberty, karyotyping is important for virilizing phenotypic female, and virilization in Turner syndrome implies the existence of Y chromosome(substance) (peripheral blood or tissue mosaicism) and the occurrence of gonadal tumors.

Clinical characteristics of sitosterolemic children with xanthomas as the first manifestation.

BACKGROUND: Sitosterolemia (STSL) is an extremely rare genetic disease. Xanthomas as the first symptom are frequently misinterpreted as familial hypercholesterolemia (FH) in children. Inappropriate treatment may deteriorate the condition of STSL. OBJECTIVES: To present the clinical and laboratory characteristics of xanthomatous children diagnosed with sitosterolemia in comparison with childhood FH with xanthomas. METHODS: We summarized and compared the clinical characteristics of STSL and FH patients with xanthomas as the first manifestations and investigated the different indicators between the STSL and FH groups, as well as their diagnostic values for STSL. RESULTS: Two tertiary pediatric endocrinology departments contributed ten STSL cases. Five of the STSL patients (50%) experienced mild anemia, whereas two (20%) had vascular complications. The xanthomas of the STSL group displayed morphologies comparable to those of the FH group. There were ten cases of homozygous FH (HoFH) with xanthomas as the predominant symptom of the control group who had no anemia. The serum cholesterol (Chol) levels of the STSL and FH groups were 12.57 (9.55 ~ 14.62) mmol/L and 17.45 (16.04 ~ 21.47) mmol/L, respectively (p value 0.002). The serum low-density lipoprotein cholesterol (LDL-c) levels of the STSL and FH groups were 9.26 ± 2.71 mmol/L and 14.58 ± 4.08 mmol/L, respectively (p value 0.003). Meanwhile, the mean platelet volume (MPV) levels of the STSL and FH groups were 11.00 (9.79 ~ 12.53) fl. and 8.95 (8.88 ~ 12.28) fl., respectively (p value 0.009). The anemia proportions of the STSL and FH groups were 50% and 0%, respectively (p value 0.033). The AUC values of Chol, LDL-c, MPV, hemoglobin (Hb) for the diagnosis of STSL were 0.910, 0.886, 0.869, 0.879, respectively. Chol ≤ 15.41 mmol/L, LDL-c ≤ 13.22 mmol/L, MPV ≥ 9.05 fl., or Hb≤120 g/L were the best thresholds for diagnosing STSL with childhood xanthomas. CONCLUSION: The xanthoma morphology of STSL patients resembles that of FH patients. Xanthomas as the initial symptom of a child with Chol ≤ 15.41 mmol/L, LDL-c≤13.22 mmol/L, MPV ≥ 9.05 fl., or Hb≤120 g/L, he was most likely to have STSL.

Pleomorphism of the HPG axis with NR0B1 gene mutation - a case report of longitudinal follow-up of a proband with central precocious puberty.

OBJECTIVES: X-linked adrenal hypoplasia congenita (AHC) is characterized by adrenal insufficiency and hypogonadotropic hypogonadism. Herein, we report a rare case of X-linked AHC with central precocious puberty (CPP). CASE PRESENTATION: An 11-month-old male patient was found to have premature pubarche, enlargement of the penis, and frequent erection. LH and FSH levels after the GnRHa test were in the pubertal range. Direct sequencing revealed a heterozygous variant of the NR0B1 gene. The proband was treated with hydrocortisone and 9-alpha fludrocortisone because of the significantly elevated ACTH and renin activity. The secondary sexual characteristics relieved gradually. The serum testosterone and LH subsequently returned to the prepubertal range. The basal serum FSH values have been between 1.0 and 2.0 IU/L since the age of 2.25 years, with extremely low AMH levels beginning at 3 years. CONCLUSIONS: The clinical course of CPP with NR0B1 variant may be temporary. HPG axis status of X-linked AHC may probably be pleomorphic during the longitudinal follow-up.

A comparative study on perinatal outcomes of red blood cell-alloimmunized pregnancies with anti-RhD in combination and anti-RhD alone in China.

BACKGROUND AND OBJECTIVES: The advent of intrauterine transfusion (IUT) has improved the survival of severe foetal anaemia. The aim of this study was to compare the perinatal outcomes of red blood cell (RBC)-alloimmunized pregnancies with anti-RhD in combination and anti-RhD alone in China. MATERIALS AND METHODS: A retrospective study was conducted involving RBC-alloimmunized pregnancies with anti-RhD in combination and anti-RhD alone admitted to The First Affiliated Hospital, Sun Yat-sen University, between January 2007 and December 2019. Obstetric data and neonatal outcomes were compared. RESULTS: A total of 165 alloimmunized pregnancies were identified, with 32 pregnancies in the anti-RhD-in-combination group (25 pregnancies with anti-RhD + anti-RhC and 7 pregnancies with anti-RhD + anti-RhE) and 133 pregnancies in the anti-RhD-alone group. The anti-RhD-in-combination group had significantly higher frequency of IUTs than the anti-RhD-alone group (59.4% [19/32] vs. 30.1% [40/133]; p < 0.01). The postnatal frequency of top-up transfusions was significantly higher in the anti-RhD in combination group than the anti-RhD-alone group (90.6% [29/32] vs. 70.7% [94/133]; p = 0.02). There was no significant difference in the frequency of exchange transfusions (ETs) between the two groups (15.6% [5/32] vs. 17.3% [23/133]; p = 0.82). CONCLUSIONS: Compared to alloimmunized pregnancies with anti-RhD alone, pregnancies with anti-RhD in combination with anti-RhC or anti-RhE have an increased requirement for antenatal IUTs and postnatal top-up transfusions but do not have an increased need for ETs.

Voriconazole Induced Hallucinations and Visual Disturbances in a Female Child: A Case Report and Literature Review.

Voriconazole is a second-generation azole widely used for the prevention and treatment of fungal infection in leukemia patients. We report a case of 9-year-old girl with T-cell acute lymphoblastic leukemia who developed hallucinations and visual disturbance after using voriconazole twice. These symptoms began acutely after treatment with voriconazole and resolved rapidly when the voriconazole was stopped. No specific cause was identified, and thus the symptoms were considered to be the adverse drug reactions (ADRs) of voriconazole. Simultaneous development of hallucinations and visual disturbance caused by voriconazole in children rarely have been reported before and the causes of these ADRs are unknown. Several other cases of hallucinations and (or) visual disturbance caused by voriconazole among 15-81 years old patients have been reported in the literature, and are reviewed. Those patients reminded us of the importance of being aware of hallucinations and visual disturbance associated with voriconazole treatment. In addition, we speculate that the hallucinations and visual disturbance are not related to the dosage form of voriconazole. We emphasize that it is also important to monitor the concentration of voriconazole regularly to avoid potential toxicity.

Prevalence of Spirometra mansoni in dogs, cats, and frogs and its medical relevance in Guangzhou, China.

BACKGROUND: Sparganosis is an important parasitic disease in Guangzhou and is mainly acquired through the consumption of frog meat or contact with fresh frogs infected by larval stages (spargana) of the tapeworm species Spirometra mansoni. METHODS: In this study, the prevalence of intestinal S. mansoni infections (with adult parasites) in dogs and cats and of extraintestinal S. mansoni infections (with spargana) in frogs was assessed. In addition, a questionnaire survey was carried out among residents in Guangzhou City in order to evaluate their awareness about the medical and epidemiological relevance of Spirometra and sparganosis. RESULTS: In total, the feces of 229 dogs and 116 cats were examined for eggs, and 1949 frogs were examined for spargana. Sixty-three dogs (27.5%) and 47 cats (40.5%) had eggs in their feces. Two hundred and sixteen out of 416 wild Rana tigrina rugulosa Wiegmann frogs examined were sparganum-positive, with an infection rate of 51.9%, while the infection rate in Rana limnocharis Boie was 35.1% (13/37). None of the tested farmed frogs (including R. tigrina rugulosa and Rana catesbeiana) was positive (0/1382). Analysis of the questionnaire revealed the following results: (1) about 41.0% of residents in Guangzhou had some knowledge of sparganosis or sparganum infection, and information in TV programs was the most important way that residents learned about sparganosis. (2) About 59.9% of the residents ate frog meat. Eating the meat, viscera, or blood of animals, e.g., frogs, snakes, pigs, chicken, mice, and birds, in an improper way might be the main means by which residents acquire the infection. (3) The risk of sparganum infection was higher in males than in females. CONCLUSIONS: A high sparganum infection rate was observed in the wild frogs sold in agricultural product markets in Guangzhou. The infection was also serious in cats and dogs in Guangdong Province. With lifestyles and eating habits resulting in sparganum infection, it is necessary to focus on market management and community education in order to prevent the transmission of this disease in Guangzhou.