Height benefit of GnRH agonists after age 8 in a Portuguese cohort of central precocious puberty.

OBJECTIVE: Idiopathic central precocious puberty (iCPP) is common in paediatric endocrinology. Gonadotropin-releasing hormone agonists (GnRHa) are safe, but the effect on final height and the ideal timing for treatment remains controversial. This study aims to assess the effectiveness of GnRHa on growth outcomes in girls with iCPP treated before and after the age of 8 years old. DESIGN AND PATIENTS: This retrospective longitudinal study evaluated data from Portuguese girls with iCPP who completed treatment between 2010 and 2021. MEASUREMENTS: Auxological and clinical characteristics were compared according to age at treatment onset. RESULTS: A cohort of 134 girls with iCPP, was divided into early treatment (ET) (<8 years, n = 48) and later treatment (LT) groups (≥8 years, n = 86). In both groups, most children presented with Tanner II and III. Tanner IV was more frequent in LT group (p = .003). At the end of treatment, predicted adult height increased in both groups (ET p = .032; LT p = .04) and bone age significantly slowed down in all participants (p = .008, p = .034). The height gain was greater in the ET group, but without significant differences (p = .065). CONCLUSIONS: Treatment with GnRHa improved final height in all girls with iCPP, even when initiated after 8 years. To achieve better outcomes, treatment should be provided promptly after diagnosis.

Hypothalamic hamartoma: a cause of precocious puberty.

Hypothalamic hamartomas are uncommon congenital malformations that present as precocious puberty, gelastic seizures and/or psychiatric disorders. Characteristic changes in MRI scans lead to a diagnosis. Treatment may include surgery or gonadotropin-releasing hormone agonists (GnRHa) depending on clinical manifestations.Here, we describe a case of hypothalamic hamartoma diagnosed in a girl in middle childhood, who presented with early development of secondary sexual characteristics. Physical examination, hormonal study, bone age and pelvic ultrasound findings were consistent with those of precocious puberty. The investigation also included a brain MRI scan, which revealed a small nodule with regular limits in the left hypothalamic region/tuber cinereum. GnRHa treatment and neurosurgical follow-ups were initiated promptly. The patient showed a reversal of secondary sexual characteristics and stable hamartoma size. This case illustrates the importance of brain MRI scans as part of the assessment of suspected precocious puberty because clinical features do not identify patients with an underlying pathology.

Do GnRH Agonists Really Increase Body Weight Gain? Evaluation of a Multicentric Portuguese Cohort of Patients With Central Precocious Puberty.

Introduction: There are several concerns associated with gonadotropin-releasing hormone agonist (GnRHa) treatment for central precocious puberty (CPP), such as obesity and changes in body mass index (BMI). We aimed to investigate whether any anthropometric differences exist and if they persist over time. Methods: We conducted an observational study of Portuguese children (both sexes) diagnosed with CPP between January 2000 and December 2017, using a digital platform, in order to analyze the influence of GnRHa treatment on BMI-SD score (BMI-SDS). Results: Of the 241 patients diagnosed with CPP, we assessed 92 patients (8% boys) in this study. At baseline, 39% of the patients were overweight. BMI-SDS increased with treatment for girls but then diminished 1 year after stopping GnRHa therapy (p = 0.018). BMI-SDS variation at the end of treatment was negatively correlated with BMI-SDS at baseline (p < 0.001). Boys grew taller and faster during treatment than did girls (p < 0.001), and therefore, their BMI-SDS trajectory might be different. Conclusions: This study showed an increase of body weight gain during GnRHa treatment only in girls, which reversed just 1 year after stopping treatment. The overall gain in BMI-SDS with treatment is associated with baseline BMI-SDS.

CYP21A2 Gene Pathogenic Variants: A Multicenter Study on Genotype-Phenotype Correlation from a Portuguese Pediatric Cohort.

BACKGROUND: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is an autosomal recessive disorder characterized by 3 overlapping phenotypes: salt-wasting (SW), simple virilizing (SV), and non-classic (NC). We aimed at conducting a nationwide genotype description of the CAH pediatric patients and to establish their genotype-phenotype correlation. METHODS: CAH patients were recruited from Portuguese pediatric endocrinology centers and classified as SW, SV, or NC. Genetic analysis was performed by polymerase chain reaction (sequence specific primer, restriction fragment length polymorphism) or direct Sanger sequencing. Genotypes were categorized into 4 groups (0, A, B, and C), according to their predicted enzymatic activity. In each group, the expected phenotype was compared to the observed phenotype to assess the genotype-phenotype correlation. RESULTS: Our cohort comprises 212 unrelated pediatric CAH patients (29% SW, 11% SV, 60% NC). The most common pathogenic variant was p.(Val282Leu; 41.3% of the 424 alleles analyzed). The p.(Val282Leu) variant, together with c.293-13A/C>G, p.(Ile173Asn), p.(Leu308Thr), p.(Gln319*), and large deletions/conversions were responsible for 86.4% of the mutated alleles. Patients' stratification by disease subtype revealed that the most frequent pathogenic variants were c.293-13A/C>G in SW (31.1%), p.(Ile173Asn) in SV (46.9%), and p.(Val282Leu) in NC (69.5%). The most common genotype was homozygosity for p.(Val282Leu; 33.0%). Moreover, we found 2 novel variants: p.(Ile161Thr) and p.(Trp202Arg), in exons 4 and 5, respectively. The global genotype-phenotype correlation was 92.4%. Group B (associated with the SV form) showed the lowest genotype-phenotype correlation (80%). CONCLUSION: Our cohort has one of the largest NC CAH pediatric populations described. We emphasize the high frequency of the p.(Val282Leu) variant and the very high genotype-phenotype correlation observed.

Promoção do conforto na pessoa em processo cirúrgico: intervenção do enfermeiro de reabilitação / Promoting comfort in people undergoing surgery: rehabilitation nurse intervention

Perante o aumento exponencial de cirurgias realizadas, surge a necessidade de criar conhecimento e evidência científica sobre a intervenção especializada junto desta população específica. As complicações pós-operatórias são a maior causa de morbilidade, mortalidade e institucionalização prolongada com aumentos inerentes de custos económicos. Estas complicações podem ser de diversas etiologias e estar dependentes de diversos fatores de risco associados. As intervenções do enfermeiro especialista em enfermagem de reabilitação à pessoa em processo cirúrgico promovem diagnósticos precoces e ações preventivas, assegurando a manutenção da funcionalidade e a prevenção de complicações. Esta atuação especializada possibilita manter ou recuperar independência, controlando e minimizando efeitos das complicações associadas. O conforto é a condição experimentada pelas pessoas que recebem as medidas de conforto, é a experiência imediata e holística de ser fortalecido através da satisfação das necessidades dos três tipos de conforto ­ alívio, tranquilidade e transcendência, nas dimensões física, psico-espiritual, social e ambiental. Para o âmbito do presente relatório, foi realizada uma revisão narrativa da literatura, recorrendo ao método PI(C)O partindo da seguinte questão: "Quais as intervenções de enfermagem de reabilitação (Intervention), na promoção do conforto (Outcomes), na pessoa em processo cirúrgico (Population)?" O presente relatório permitiu desenvolver conhecimento e competências aos níveis do processo cirúrgico, complicações pós-operatórias e respetiva intervenção do enfermeiro especialista em enfermagem de reabilitação. No decorrer do processo de aquisição das competências comuns e específicas do enfermeiro especialista, foi fundamentada a intervenção especializada como promotora de conforto apoiada na Teoria do Conforto de Kolcaba. O enfermeiro especialista em enfermagem de reabilitação ao abordar o conforto na sua intervenção, deve esperar resultados realistas assentes nessas dimensões, obtendo os respetivos níveis de conforto. O conforto e as suas necessidades são mutáveis e consideram-se interdependentes dos programas de enfermagem de reabilitação e vice-versa.

Given the exponential increase in the number of surgeries performed, there is a need to create knowledge and scientific evidence on the specialised intervention for this specific population. Postoperative complications are a major cause of morbidity, mortality, and prolonged institutionalisation with inherent increases in economic costs. These complications may have different etiologies and be dependent on several associated risk factors. The interventions of the nurse specialist in rehabilitation to patients undergoing surgery promote early diagnosis and preventive actions, ensuring the maintenance of functionality and the prevention of complications. This specialised action allows maintaining or regaining independence, controlling and minimising the effects of the associated complications. Comfort is the condition experienced by people who receive comfort measures, it is the immediate and holistic experience of being strengthened through the satisfaction of the needs of the three types of comfort - relief, tranquillity and transcendence, in the physical, psycho-spiritual, social and environmental dimensions. To address this topic, a narrative literature review was conducted using the PI(C)O method based on the following question: "What are the interventions of rehabilitation nursing (Intervention), in the promotion of comfort (Outcomes), in people undergoing surgery (Population)?" During the process of acquisition of common and specific competencies of the specialist nurse, the specialised intervention was based on Kolcaba's Comfort Theory as a promoter of comfort. The specialist nurse in rehabilitation, when addressing comfort in his intervention, should expect realistic results based on these dimensions, obtaining the respective levels of comfort. Comfort and its needs are changeable and are considered interdependent on rehabilitation nursing programs, and vice-versa.

Adrenoleukodystrophy: a forgotten diagnosis in children with primary Addison's disease.

The X linked adrenoleukodystrophy (X-ALD) is a peroxisomal disease caused by defects of the ABCD1 gene on chromosome Xq28 leading to accumulation of very long chain fatty acids (VLCFA), progressive demyelination and adrenal insufficiency. An 8-year-old boy was referred to our paediatric endocrinology clinic due to fatigue and hyperpigmentation with onset at 2-years old. Blood tests revealed mineralocorticoid insufficiency. Serum adrenocorticotropic hormone and cortisol concentrations were compatible with adrenal insufficiency. Adrenal antibodies were negative. The elevated plasmatic concentration of VLCFA and the genotype analysis with sequencing of ABCD1 gene established the diagnosis of X-ALD. Brain MRI showed demyelination of white matter in the peritrigonal regions. Steroid replacement was started with good response. He initiated restriction of VLCFA by reducing the intake of fatty foods. The authors highlight the importance of suspecting of X-ALD in the aetiology of primary adrenal insufficiency as the first sign of the disease.

Bloody nipple discharge in infancy--report of two cases.

Bloody nipple discharge (BND) in infancy is an exceptionally rare finding. We report the cases of two children who are 9 and 29 months old. The first case presented with 1 month of bilateral intermittent blood-stained nipple discharge with no other symptoms. The second case presented with 15 days of intermittent right BND and a small palpable mass, without obvious signs of inflammation. The coagulation and hormonal tests were within the age-appropriate reference ranges. Ultrasound examination was normal. Cytological evaluation of nipple discharge showed no malignant cells. Both patients had spontaneous symptoms resolution. BND in paediatric age is usually benign and self-limited and often related to mammary duct ectasia. Unnecessary invasive procedures or treatments should be avoided.

Rib osteomyelitis in a pediatric patient case report and literature review.

Rib osteomyelitis is a very rare form of childhood osteomyelitis. We describe a case of a 9-year-old child with an osteomyelitis of the rib due to Staphylococcus aureus and review 57 cases reported in the literature. This case demonstrates that the diagnosis of this uncommon disease requires a high index of suspicion due to its rarity and nonspecific signs.

[Spondylodiscitis]. / Espondilodiscite.

The authors present a clinical case of a female child, aged 23 months, previously healthy that 24 hours after falling down started to refuse walking and complained about back pain. She never had fever. She felt better with nonsteroidal antiinflammatory drugs, restarting the symptoms, two days after therapy suppression. At admission on hospital she presented inability to flex the lower back and loss of lumbar lordosis, being normal the remaining physical examination. There was a raise of erythrocyte sedimentation rate (ESR) and a radiological narrowing of the L1/L2 inter-vertebral disc space, a compatible image of spondylodiscitis in the MRI. Several diagnosis hipothesis have been considered, being infectious spondylodiscitis the most probable. We instituted tuberculosis therapeutic during one year and intravenous ceftriaxone for tree weeks followed by oral acetil cefuroxime (tree weeks). The spine has been immobilized with spine support. At four months disease and two months therapy, a Oerskovia xanthineolytica was isolated by intervertebral needle biopsy. A good clinical and radiological evolution has been observed. The authors stress the importance of MRI and intervertebral needle biopsy in the diagnosis of spondylodiscitis. It is also enhanced the use of MRI and ESR in the monitoring of response to the treatment.