Severe in utero under-virilization in a 46,XY patient with Silver-Russell syndrome with 11p15 loss of methylation.

Background Silver-Russell syndrome (SRS) is characterized by growth retardation and variable features including macrocephaly, body asymmetry, and genital manifestations such as cryptorchidism in 46,XY patients. Case presentation The patient was born at 39 weeks with a birth weight of 1344 g. Subtle clitoromegaly warranted a thorough evaluation, which disclosed 46,XY karyotype, bilateral undescended testes, and a rudimentary uterus. Because of severe under-virilization, the patient was assigned as female. Failure to thrive, macrocephaly, and body asymmetry led to the diagnosis of SRS, confirmed by marked hypomethylation of H19/IGF2 intergenic differentially methylated region (IG-DMR). From age 9 years, progressive virilization occurred, which necessitated luteinizing hormone-releasing hormone analog (LHRHa) treatment. Gonadal resection at 15 years revealed immature testes with mostly Sertoli-cell-only tubules. Panel analysis for 46,XY-differences of sex development (DSD) failed to detect any pathogenic variants. Conclusions This is the second reported case of molecularly proven 46,XY SRS accompanied by severe under-virilization. SRS should be included in the differential diagnosis of 46,XY-DSD.

Auditory verbal hallucinations increase the risk for suicide attempts in adolescents with suicidal ideation.

OBJECTIVE: It is important to prevent patients with suicidal ideation from actually attempting suicide. A school based cohort study suggested that auditory verbal hallucinations (AVHs) might play an important role in driving young people with mental health problems to attempt suicide. However, no clinical study to date has specifically investigated the association between AVHs and suicide attempts among young patients with suicidal ideation. METHOD: We conducted a cross-sectional study of first-visit psychiatric referrals aged 10-15years at two general child and adolescent mental health hospitals in Japan. We administered self-reported questionnaires to measure suicidal ideation and suicide attempts, AVHs, and depression in the two weeks prior to the date of first-visit. RESULTS: Among 188 patients with suicidal ideation, the presence of AVHs was associated with increased odds of suicide attempts (OR 3.4, 95% CI 1.7-6.9; p<0.05); however, depression was not associated with a significant change of odds (OR 0.7, 95% CI 0.4-1.3; p=0.29). CONCLUSIONS: AVHs may increase the risk of suicide attempts made by adolescents with suicidal ideation. Clinicians should consider AVHs when adolescent patients present with suicidal ideation.

Long-term 3,5,3'-triiodothyroacetic acid therapy in a child with hyperthyroidism caused by thyroid hormone resistance: pharmacological study and therapeutic recommendations.

BACKGROUND: The effectiveness of short-term 3,5,3'-triiodothyroacetic acid (TRIAC) therapy for the treatment of hyperthyroidism caused by thyroid hormone resistance (RTH) has been documented. Here, we report a 3-year course of TRIAC therapy in an RTH boy, with a quantitative evaluation of the therapeutic effects and pharmacological study of TRIAC. PATIENT FINDINGS: The gene encoding the thyroid hormone receptor beta (THRB) of the patient carries a P453T mutation. During treatment with up to 3.0 mg TRIAC per day, reduction in the thyroid volume, resolution of supraventricular arrhythmia, and decrease in thyroid-stimulating hormone (TSH) and free-thyroxine (FT4) levels were achieved. In addition, attention-deficit hyperactivity disorder (ADHD) symptoms improved, with a concomitant decline in the ADHD Rating Scale score. SUMMARY: A TRIAC pharmacokinetic study, conducted using triiodothyronine level as a surrogate for TRIAC level, demonstrated that TRIAC disappears from the circulation rapidly and has a shorter duration of TSH secretion inhibitory effect in the RTH patient compared to that in the control subject. Studies of TSH and FT4 levels over a period of 3 years indicated that the TRIAC effect is dose dependent. CONCLUSIONS: TRIAC was effective and safe in ameliorating the effects of hyperthyroidism and ADHD symptoms in a child with known genetic RTH. Further, it was demonstrated that TRIAC has a short half-life and functions dose dependently.

Relationship of intentional self-harm using sharp objects with depressive and dissociative tendencies in pre-adolescence-adolescence.

AIMS: The objectives of the present study were to (i) evaluate the prevalence of children and adolescents who have engaged in intentional self-harm using a sharp object; and (ii) investigate the relationship between self-harm with sharp objects and depressive tendencies or dissociative tendencies. METHODS: A total of 1938 students in grades 5-12 in Yokohama, Japan, were enrolled, and they completed anonymous self-report questionnaires including a question about intentional self-harm with a sharp object, the Depression Self-Rating Scale for Children (DSRSC) and the Adolescent Dissociative Experiences Scale (A-DES). RESULTS: The prevalence of self-harm using sharp object was 5.4% among male 5th-6th graders, 4.0% among female 5th-6th graders, 5.3% among male 7th-9th graders, 15.1% among female 7th-9th graders, 6.6% among male 10th-12th graders, and 9.6% among female 10th-12th graders. Categorical regression analysis showed that a small amount of variance in self-harm by sharp object was explained by DSRSC and A-DES scores. CONCLUSIONS: Self-harm with a sharp object was prevalent among pre-adolescents and adolescents and was associated with depressive and dissociative tendencies.