Escondido pelo cabelo - um caso de puberdade precoce

McCune-Albright syndrome (MAS) is one of the conditions causing precocious gonadotropin-independent puberty. It is a rare disease, characterized by two of the three following features: precocious puberty, polyostotic fibrous dysplasia (PFD), and café au lait (CAL) skin spots. Herein is presented the case of a girl with pubarche, acne, and transient thelarche since the age of three and menarche since the age of six years old. Besides transitory follicular cysts and advanced bone age, no other changes were found. Diagnosis was only established after brain magnetic resonance imaging showed fibrous dysplasia involving left craniofacial bones. The girl’s parents later mentioned that she had multiple café au lait skin spots on the scalp since birth, disclosing how the key diagnostic sign had been covered by the child’s hair. MAS is a rare disorder and diagnosis depends on a high index of suspicion. CAL skin spots are generally the first manifestation, but can easily go unnoticed. Additionally, PFD may only affect some bones, like craniofacial.info:eu-repo/semantics/publishedVersio

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

Funding Information: We would like to thank all the colleagues who collected data for the National Database: Joana Serra, Unidade de Endocrinologia Pediátrica, Hospital Pediátrico de Coimbra, Portugal; Marcelo Fonseca, Unidade de Endocrinologia Pediátrica, Hospital Pedro Hispano, Matosinhos, Portugal; Maria João Oliveira, Unidade de Endocrinologia Pediátrica, Centro Materno Infantil do Norte, Porto, Portugal; Maria Miguel Gomes, Unidade de Endocrinologia Pediátrica, Hospital de Braga, Portugal; Paula Vieira, Serviço de Pediatria, Hospital São Francisco Xavier, Lisbon, Portugal; Rita Silva, Unidade de Endocrinologia Pediátrica, Hospital de São João, Porto, Portugal; Sónia Gomes, Unidade de Endocrinologia Pediátrica, Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal; Susana Figueiredo, Serviço de Pediatria, Hospital de Viana de Castelo, Portugal; and Susana Pacheco, Unidade de Endocrinologia Pediátrica, Hospital Fernando da Fonseca, Amadora, Portugal. We also thank all children, adolescents, and their parents for their cooperation and understanding. This investigator-initiated study was supported by an unconditional research grant from Ipsen. Funding Information: We would like to thank all the colleagues who collected data for the National Database: Joana Serra, Unidade de Endocrinologia Pedi?trica, Hospital Pedi?trico de Coimbra, Portugal; Marcelo Fonseca, Unidade de Endocrinologia Pedi?trica, Hospital Pedro Hispano, Matosinhos, Portugal; Maria Jo?o Oliveira, Unidade de Endocrinologia Pedi?trica, Centro Materno Infantil do Norte, Porto, Portugal; Maria Miguel Gomes, Unidade de Endocrinologia Pedi?trica, Hospital de Braga, Portugal; Paula Vieira, Servi?o de Pediatria, Hospital S?o Francisco Xavier, Lisbon, Portugal; Rita Silva, Unidade de Endocrinologia Pedi?trica, Hospital de S?o Jo?o, Porto, Portugal; S?nia Gomes, Unidade de Endocrinologia Pedi?trica, Centro Hospitalar Universit?rio de Lisboa Central, Lisbon, Portugal; Susana Figueiredo, Servi?o de Pediatria, Hospital de Viana de Castelo, Portugal; and Susana Pacheco, Unidade de Endocrinologia Pedi?trica, Hospital Fernando da Fonseca, Amadora, Portugal. We also thank all children, adolescents, and their parents for their cooperation and understanding. This investigator-initiated study was supported by an unconditional research grant from Ipsen. Publisher Copyright: Copyright © 2022 Leite, Galo, Antunes, Robalo, Amaral, Espada, Castro, Simões Dias and Limbert.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.publishersversionpublishe

The multiple meanings of "wheezing": a questionnaire survey in Portuguese for parents and health professionals

<p>Abstract</p> <p>Background</p> <p>Most epidemiological studies on pediatric asthma rely on the report of "wheezing" in questionnaires. Our aim was to investigate the understanding of this term by parents and health professionals.</p> <p>Methods</p> <p>A cross-sectional survey was carried out in hospital and community settings within the south of Portugal. Parents or caregivers self-completed a written questionnaire with information on social characteristics and respiratory history. Multiple choice questions assessed their understanding of "wheezing". Health professionals (physicians, nurses and physiotherapists) were given an adapted version. We used bivariate analysis and multivariate models to study associations between definitions of "wheezing" and participants' characteristics.</p> <p>Results</p> <p>Questionnaires from 425 parents and 299 health professionals were included. The term "wheezing" was not recognized by 34% of parents, more frequently those who were younger (OR 0.4 per 10-year increment, 95% CI 0.3-0.7), had lower education (OR 3.3, 95% CI 1.5-7.4), and whose children had no history of respiratory disease (OR 4.6, 95% CI 2.5-8.7) (all ORs adjusted). 31% of parents familiar with "wheezing" either did not identify it as a sound, or did not locate it to the chest, while tactile (40%) and visual (34%) cues to identify "wheezing" were frequently used. Nurses reported using visual stimuli and overall assessments more often than physicians (p < 0.01). The geographical location was independently associated with how parents recognized and described "wheezing".</p> <p>Conclusions</p> <p>Different meanings for "wheezing" are recognized in Portuguese language and may be influenced by education, respiratory history and regional terminology. These findings are likely applicable to other non-English languages, and suggest the need for more accurate questionnaires and additional objective measurement instruments to study the epidemiology of wheezing disorders.</p

Protocolo de actuação na hemorragia subaracnoideia não traumática

A hemorragia subaracnoideia não traumática é uma emergência neurológica que, embora rara em Pediatria, comporta uma grande morbilidade e mortalidade. O seu diagnóstico exige um grau de suspeição elevado, devendo a abordagem terapêutica ser realizada num centro especializado que disponha de cuidados intensivos pediátricos, com apoio de neurocirurgia e neurorradiologia. Dada a experiência da nossa Unidade no tratamento destes doentes, foi actualizado o protocolo de actuação na hemorragia subaracnoideia não traumática tendo este sido posteriormente aprovado pela Secção dos Cuidados Intensivos da Sociedade Portuguesa de Pediatria, em Maio de 2008. Com este protocolo pretende-se sistematizar o diagnóstico e a terapêutica nos doentes com hemorragia subaracnoideia

Adrenal hypoplasia congenita: a rare cause of primary adrenal insufficiency and hypogonadotropic hypogonadism

Primary adrenal insufficiency is defined by the impaired synthesis of adrenocortical hormones due to an intrinsic disease of the adrenal cortex. Determining its etiology is crucial to allow adequate long-term management and genetic counseling. We report the case of a male adolescent that presented in the neonatal period with adrenal crisis and received replacement therapy for primary adrenal insufficiency. During follow-up, adrenal hypoplasia congenita (AHC) was suspected given his persistently raised adrenocorticotropic hormone levels, with markedly low 17-OH progesterone and androstenedione levels. DNA sequence analysis revealed a mutation in NR0B1 gene (c.1292delG), confirming the diagnosis. Delayed puberty and persistent low levels of gonadotropins led to testosterone replacement therapy. X-linked AHC is a rare cause of primary adrenal insufficiency and hypogonadotropic hypogonadism, related to mutations in NR0B1 gene. Despite its rarity, AHC should be considered in patients who present with primary adrenal failure, low levels of 17-OH progesterone and hypogonadotropic hypogonadism

Short Stature on a Boy: Mosaicism with an Isodicentric Y Chromosome

Mosaicism brings great variability into the clinical expression of numerical and structural chromosomal abnormalities. The phenotypic variability of 45,X/46,XY mosaicism extends from Turner syndrome to apparently physically normal males. We present a case of a 14-year-old adolescent with short stature and delayed puberty, who was admitted in a Paediatric Endocrinology outpatient clinic. After a careful investigation, he was found to have a 45,X/46,X,idic(Y)(p11.32) mosaicism. This case report emphasizes the wide range of etiologies that can be involved in short stature and that chromosomal study is an important tool when firstly approaching males with short stature, avoiding unnecessary tests. There is an important clinical need for gonadal follow-up in this situation and for support in the decision about sex of rearing and sex orientation, when justifiable

Doença de Addison na infância

A insuficiência supra-renal primária ou doença de Addison é uma patologia rara em idade pediátrica. O seu quadro clínico e a particularidade das diferentes etiologias tornam-na especialmente difícil de diagnosticar. Ilustra-se esta realidade fazendo uma revisão teórica, dedicando especial ênfase à forma de apresentação, à diversidade de manifestações clínicas e à importância do diagnóstico etiológico preciso.

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

© 2023 John Wiley & Sons Ltd.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.info:eu-repo/semantics/publishedVersio