Abstract.A clinical diagnosis of septo-optic dysplasia (SOD) is made when two or more of the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities or midline brain defects. To date, a clinical study of SOD, regarding its endocrinological features in particular, has not been undertaken in Japan. We retrospectively evaluated 14 SOD patients at our institution. Hormonal dysfunction was present in 78% of cases: ten cases presented combined hypopituitarism and one case presented precocious puberty. GHD and hypothyroidism were the most common endocrinopathies. A thin pituitary stalk and a gradual decrease in hormone secretion were the main characteristics. SOD patients usually visited ophthalmologists during early infancy because of eye problems; however, the medical examination did not always lead to endocrine assessments being made. Consequently, children who have eye problems with optic nerve hypoplasia should undergo head MRI imaging. If diagnosed with SOD, it is very important to evaluate pituitary functions. Their endocrinological status should be followed for a long time, even if they do not exhibit any endocrinological problems at evaluation.

GH therapy in pediatric patients with Prader-Willi syndrome (PWS) improves body composition, but discontinuation of GH after achieving adult height has been implicated in its deterioration. Although there is evidence for the deleterious effects of visceral adipose tissue (VAT) rather than subcutaneous adipose tissue (SAT) on the development of obesity-related complications, the effects of GH discontinuation on fat distribution in adults with PWS has not been fully investigated. Therefore, we utilized dual-energy X-ray absorptiometry (DEXA) and abdominal computed tomography (CT) to compare the fat distribution between before and 6 months or 12 months after the cessation of GH therapy in 7 adult PWS patients. GH therapy was initiated at a mean age of 4.1 ± 1.4 years and discontinued at a mean age of 18.9 ± 1.8 years. Serum IGF-1 levels were decreased by discontinuation of GH therapy. Fat mass was significantly increased 6 and 12 months after GH cessation, whereas muscle mass and bone mineral density were unchanged during both study periods. Abdominal CT analysis revealed that elevations in fat mass were due to increases in VAT rather than SAT. Circulating low-density lipoprotein (LDL) cholesterol levels were significantly elevated 6 months after GH cessation. In conclusion, discontinuation of GH therapy caused rapid increases in visceral adipose tissue and LDL cholesterol levels. These findings indicate that continuation of GH therapy may be a therapeutic option to maintain body composition; however, further studies regarding the long-term benefits and adverse effects of GH therapy in adults with PWS are required.

Background Children born small for gestational age (SGA), particularly when associated with an extremely low birthweight (ELBW), have a higher risk of renal dysfunction. Growth hormone (GH) treatment is used to treat short‐statured children born SGA; however, its effects on renal function remain elusive, especially in those born SGA with ELBW. Methods Short‐statured children born SGA (N = 42) were included. Subjects were subdivided into two groups based on their birthweight: the ELBW group (N = 15) with a birthweight of <1,000 g, and the non‐ELBW group (N = 27) with birthweights ranging between 1,000 and 2,500 g. The creatinine‐based estimated glomerular filtration rates (eGFR) before (pre‐eGFR) and 5 years after GH treatment (post‐eGFR) were compared. Correlations between eGFR, anthropometric, or birth parameters, and cumulative GH dose were evaluated using Spearman's rank correlation coefficient. Results The ELBW group had a lower pre‐ and post‐eGFR than the non‐ELBW group. Five‐year GH treatment did not significantly reduce eGFR in either group. Post‐eGFR was positively associated with gestational week and birthweight. However, the cumulative GH dose was not correlated with pre‐eGFR, post‐eGFR, or percentage change in eGFR (%ΔeGFR). The change in bodyweight standard deviation score during GH treatment was positively correlated with %ΔeGFR in the ELBW group. Conclusions The current results indicated that GH treatment was unlikely a risk for the reduction in eGFR in short‐statured children born SGA. However, eGFR should be carefully monitored, especially in those born SGA with ELBW because these subjects had lower eGFR than non‐ELBW subjects.

The earlier initiation of growth hormone (GH) treatment for patients with Prader-Willi syndrome (PWS) who are younger than 2 years has become more prevalent. Because free thyroxine (FT4) levels are low during this period, GH may induce further reductions; however, limited information is currently available on this issue. Therefore, we herein performed age-dependent and time-course analyses of thyroid hormone levels in GH-treated PWS children. This retrospective analysis included genetically diagnosed PWS patients (N = 37, median age of 26 months). An age-dependent analysis was performed by subdividing subjects based on age [a younger group aged between 1 and 24 months (N = 16) and an older group between 25 and 84 months (N = 21)] and was followed by a multiple regression analysis with adjustments for sex and the cumulative GH dose per bodyweight. A time-course analysis of subjects who had not received levothyroxine during the first 18 months of GH treatment (N = 28) was conducted. A one-month treatment with GH decreased FT4 levels in the older group, but not in the younger group, and this was associated with increases in thyroid-stimulating hormone levels. A positive correlation was noted between age and decreases in FT4 levels independent of the cumulative GH dose per bodyweight. The time-course analysis revealed no changes in FT4 levels in the younger group, while transient decreases were observed in the older group. In conclusion, GH treatment causes age-dependent changes in FT4 levels. This result will help clinicians establish a therapeutic strategy to decide the necessity of levothyroxine supplementation in GH-treated children with PWS.