ABSTRACT
Purpose@#Sleep-disordered breathing is one of the complicating characteristics in patients with Prader-Willi syndrome (PWS). No detailed description and risk factors are suggested on breathing problems during sleep in Korean children with PWS. @*Methods@#We reviewed clinical and sleep-study data in patients with PWS who underwent polysomnography before they took the growth hormone therapy. @*Results@#Of the 27 patients with PWS, 25 (92.6%) had sleep-disordered breathing, of whom 14 showed moderate to severe sleep apnea. Obstructive dominance was prevalent (64%), followed by central dominance (24%). The apnea-hypopnea index (AHI) increased with increasing weight-for-height z-score (WHZ) (r = 0.50, P = 0.009), but did not differ by age. Apnea duration of over 12 months was longer in the patient group than in the infant group (15.1 ± 4.3 seconds vs. 9.4 ± 1.7 seconds, P = 0.001) and in the obese than nonobese groups (16.8 ± 4.3 seconds vs. 10.0 ± 2.0 seconds, P = 0.003). Desaturation below 70% was more common in the obese than nonobese subjects (3/9 vs. 0/18, P = 0.029). Age was not different between the central and obstructive apnea groups, but patients with central apnea tended to be younger than patients with obstructive apnea (median [range]: 8.0 months [6.0–12.0 months] vs.16.5 months [8.5–79.5 months], P = 0.092). In addition, patients with obstructive apnea showed higher AHI (12.8 [5.9–19.2] vs. 3.9 [3.4–4.5], P = 0.045). @*Conclusion@#Sleep-disordered breathing is common in PWS children with different intensity and patterns according to age and BMI. Close monitoring of breathing problems during sleep is required in PWS patients.
ABSTRACT
Purpose@#Gonadotropin-releasing hormone agonist (GnRHa) has been the mainstay of central precocious puberty (CPP) treatment for decades, but few reports have compared the efficacy of 1-month and 3-month depot GnRHa formulations. This study investigates the short-term efficacy of 1-month and 3-month GnRHa depots in girls with CPP. @*Methods@#Overall, 150 girls with CPP were included in a retrospective review of medical records. Subjects in group 1 (n=105) were treated with 1-month GnRHa depots for ≥12 months, and those in group 2 (n=45) were treated with 1-month GnRHa depots for 6 months followed by 3-month GnRHa depots for ≥6 months. Anthropometric and biochemical data were compared between the groups at 3-time points (after 0, 6, and 12 months of GnRHa treatment). @*Results@#Demographic and clinical characteristics did not differ between the groups at baseline or after 6 months of GnRHa treatment. After 12 months of GnRHa treatment, patients in the both groups showed no difference in bone age (BA), chronological age (CA), BA–CA difference, height standard deviation score (SDS) for CA and BA, or body mass index SDS for CA and BA. The sexual maturity rate of the breast was prepubertal at 12 months in most of subjects. GnRH-stimulated luteinizing hormone (LH) level was suppressed during GnRHa treatment in both groups at 6 and 12 months, although the LH level in group 2 was higher than that in group 1. @*Conclusion@#Treating CPP with a 3-month GnRHa depot showed short-term efficacy comparable to that with a 1-month depot in anthropometric parameters and pubertal suppression.
ABSTRACT
Purpose@#Gonadotropin-releasing hormone agonist (GnRHa) has been the mainstay of central precocious puberty (CPP) treatment for decades, but few reports have compared the efficacy of 1-month and 3-month depot GnRHa formulations. This study investigates the short-term efficacy of 1-month and 3-month GnRHa depots in girls with CPP. @*Methods@#Overall, 150 girls with CPP were included in a retrospective review of medical records. Subjects in group 1 (n=105) were treated with 1-month GnRHa depots for ≥12 months, and those in group 2 (n=45) were treated with 1-month GnRHa depots for 6 months followed by 3-month GnRHa depots for ≥6 months. Anthropometric and biochemical data were compared between the groups at 3-time points (after 0, 6, and 12 months of GnRHa treatment). @*Results@#Demographic and clinical characteristics did not differ between the groups at baseline or after 6 months of GnRHa treatment. After 12 months of GnRHa treatment, patients in the both groups showed no difference in bone age (BA), chronological age (CA), BA–CA difference, height standard deviation score (SDS) for CA and BA, or body mass index SDS for CA and BA. The sexual maturity rate of the breast was prepubertal at 12 months in most of subjects. GnRH-stimulated luteinizing hormone (LH) level was suppressed during GnRHa treatment in both groups at 6 and 12 months, although the LH level in group 2 was higher than that in group 1. @*Conclusion@#Treating CPP with a 3-month GnRHa depot showed short-term efficacy comparable to that with a 1-month depot in anthropometric parameters and pubertal suppression.
ABSTRACT
The Shprintzen–Goldberg syndrome (SGS) is an extremely rare genetic disorder caused by heterozygous variant in SKI . SGS is characterized by neurodevelopmental impairment with skeletal anomaly. Recognition of SGS is sometimes quite challenging in practice because it has diverse clinical features involving skeletal, neurological, and cardiovascular system. Here we report a case of a 6-month-old boy who initially presented with developmental delay and marfanoid facial features including prominent forehead, hypertelorism, high arched palate and retrognathia. He showed motor developmental delay since birth and could not control his head at the time of first evaluation. His height was above 2 standard deviation score. Arachnodactyly, hypermobility of joints, skin laxity, and pectus excavatum were also noted. Sequencing for FBN1 was negative, however, a novel missense variant, c.350G>A in SKI was identified by sequential whole exome sequencing. To our knowledge, this is the first case with SGS with phenotypic features of SGS overlapping with those of the Marfan syndrome, diagnosed by next generation sequencing in Korea.