Gonadotropin Suppression for 7 Years After a Single Histrelin Implant for Precocious Puberty.

Gonadotropin-releasing hormone analogues (GnRHas) are an effective treatment to address the compromise in height potential seen in patients with central precocious puberty. There is no evidence in the literature of a single GnRHa used for longer than 2 years before being removed or replaced. We describe a patient who was on continuous gonadotropin suppression for 7 years and despite this, achieved a height potential within 1 SD of mid-parental height. A boy aged 10 years 3 months presented to the endocrine clinic with signs of precocious puberty and advanced bone age. Initial laboratory values were a random luteinizing hormone (LH) level of 9.4 mIU/mL, follicle-stimulating hormone (FSH) 16.3 mIU/mL, dehydroepiandrosterone sulfate 127 mcg/dL, and testosterone 628 ng/dL. The patient was initially started on Lupron injections before transitioning to a histrelin implant. Follow-up laboratory results 5 months post-suppression showed pre-pubertal random LH 0.2 mIU/mL, FSH 0.1 mIU/mL, and testosterone 5 ng/dL. The patient was lost to follow-up and returned 5 years later presenting with gynecomastia and delayed bone age. He had continuous gonadotropin suppression with random LH 0.10 mIU/mL, FSH 0.16 mIU/mL, and testosterone 8 ng/dL. The histrelin implant was removed, and 4 months later, his random pubertal hormone levels were LH 5.6 mIU/mL, FSH 4.3 mIU/mL, and testosterone 506 ng/dL. The patient's mid-parental height was 175.3 cm and his near final height was 170.6 cm, which is within 1 SD of his genetic potential. Further studies are needed to explore continuous gonadotropin hormone suppression with a single histrelin implant beyond 2 years.

PETS-D (parents education through simulation-diabetes): Parents' qualitative results.

OBJECTIVE: Parents who have a child newly diagnosed with type 1 diabetes (T1D) must quickly learn daily diabetes self-management. An RCT was conducted using human patient simulation (HPS) to enhance parents learning diabetes self-management with children with new-onset T1D. The purpose of this study was to describe parents' perspectives of using HPS to augment diabetes education. METHODS: A qualitative descriptive design was used with open-ended in-depth interviews of parents (n=49) post-intervention. Qualitative directed content analysis was used. RESULTS: The majority of parents were positive about learning with HPS. Although a few parents said the HPS was "hokey" or "creepy," most reported the visual and hands-on learning was realistic and very beneficial. Seeing a seizure increased their fear although they would have panicked if they had not had that learning experience, and it helped build their diabetes self-management confidence. Recommendations included teaching others with the HPS (grandparents, siblings, babysitters, and school nurses). CONCLUSION: HPS-enhanced education is an acceptable and viable option that was generally well-received by parents of children with new-onset T1D. PRACTICE IMPLICATIONS: The technique should be studied with parents of children with other chronic illnesses to see if the benefits found in this study are applicable to other settings.

A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the ZNF214 gene.

We evaluated a patient with mild intellectual disability, obesity, overgrowth, and dysmorphic features. Array comparative genomic hybridization (aCGH) analysis showed a single copy number increase of a BAC clone in the 11p15.4 region. Oligonucleotide aCGH refined the duplication to approximately 2.29 megabases (Mb) in size. Testing the parents revealed that the father, who had learning disabilities and overgrowth, also had the 11p15.4 duplication, and the mother had a normal microarray. In addition, the patient's brother and grandmother all share clinical features with the proband and tested positive for the duplication. The duplicated region (Chr11:6,934,067-9,220,605) encompasses 29 genes, including the ZNF214 gene, which has been postulated to play a role in Beckwith-Wiedemann syndrome [Alders et al., 2000]. This three-generation pedigree outlines features of a novel microduplication syndrome.

Transient adrenal insufficiency in the premature newborn.

PURPOSE OF REVIEW: Relative adrenal insufficiency is a controversial phenomenon described in adults and children with critical illness, especially septic shock. In the past 2 decades, relative adrenal insufficiency has also been reported in the critically ill premature as well as term newborn. The present study will review the initial and more recent studies addressing adrenal insufficiency in the premature infant. RECENT FINDINGS: Studies suggest that 'relative adrenal insufficiency' is a contributing factor to hemodynamic instability in the sick preterm newborn. Many ill preterm newborns have inappropriately low serum cortisol concentrations and respond to steroid administration. Adrenal insufficiency is transient and likely reflects normal adrenal physiology at younger gestational ages. There is no general consensus on its diagnosis, effective minimum dose for treatment and duration of treatment. SUMMARY: More large scale, multicenter, randomized, double-blind studies are needed to make the diagnosis of relative adrenal insufficiency and to determine the indication, dose, complications and outcome of glucocorticoid therapy.