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OBJECTIVES: Congenital hypogonadotropic hypogonadism combined with anosmia or hyposmia is considered Kallmann syndrome (KS). It is often accompanied by bone defects. CASE PRESENTATION: Here, we report a girl and her mother with KS caused by a novel mutation in the fibroblast growth factor receptor 1 gene (FGFR1). Interestingly, the daughter presented syndactyly and oligodactyly of the feet. CONCLUSIONS: The presence of bone malformations in a KS patient should direct the geneticist towards a search for specific mutations in FGFR1. Our finding contributes to enrich the spectrum of FGFR1 mutations in patients with KS.
Asunto(s)
Hipogonadismo , Síndrome de Kallmann , Femenino , Humanos , Hipogonadismo/genética , Síndrome de Kallmann/genética , Madres , Mutación , Núcleo Familiar , Receptor Tipo 1 de Factor de Crecimiento de Fibroblastos/genética , Receptor Tipo 1 de Factor de Crecimiento de Fibroblastos/metabolismoRESUMEN
Some people, including minors, have a gender identity that does not correspond to the sex assigned at birth. They are known as trans* people, which is an umbrella term that encompasses transgender, transsexual, and other identities not conforming to the assigned gender. Healthcare units for trans* minors require multidisciplinary working, undertaken by personnel expert in gender identity, enabling, when requested, interventions for the minor and their social-familial environment, in an individualized and flexible way during the gender affirmation path. This service model also includes hormonal treatments tailored as much as possible to the individual's needs, beyond the dichotomic goals of a traditional binary model. This guide addresses the general aspects of professional care of trans* minors and presents the current evidence-based protocol of hormonal treatments for trans* and non-binary adolescents. In addition, it details key aspects related to expected body changes and their possible side effects, as well as prior counselling about fertility preservation.
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Disforia de Género , Guías de Práctica Clínica como Asunto , Personas Transgénero , Transexualidad , Adolescente , Femenino , Disforia de Género/tratamiento farmacológico , Identidad de Género , Humanos , Masculino , Menores , Transexualidad/terapiaRESUMEN
Algunas personas, también las menores de edad, tienen una identidad de género que no se corresponde con el sexo asignado al nacer. Se les conoce como personas trans*, que es el término paraguas que engloba transgénero, transexual y otras identidades no conformes con el género asignado. Las unidades de asistencia sanitaria a menores trans* requieren un trabajo multidisciplinario, realizado por personal experto en identidad de género, que permita, cuando así lo soliciten, intervenciones para el menor y su entorno sociofamiliar, de forma individualizada y flexible durante el camino de afirmación de género. Este modelo de servicio también incluye tratamientos hormonales adaptados en la medida de lo posible a las necesidades del individuo, más allá de los objetivos dicotómicos de un modelo binario tradicional. Esta guía aborda los aspectos generales de la atención profesional de menores trans* y presenta el protocolo actual basado en evidencia de tratamientos hormonales para adolescentes trans* y no binarios. Además, detalla aspectos clave relacionados con los cambios corporales esperados y sus posibles efectos secundarios, así como el asesoramiento previo sobre preservación de la fertilidad. (AU)
Some people, including minors, have a gender identity that does not correspond to the sex assigned at birth. They are known as trans* people, which is an umbrella term that encompasses transgender, transsexual, and other identities not conforming to the assigned gender. Healthcare units for trans* minors require multidisciplinary working, undertaken by personnel expert in gender identity, enabling, when requested, interventions for the minor and their socialfamilial environment, in an individualized and flexible way during the gender affirmation path. This service model also includes hormonal treatments tailored as much as possible to the individual's needs, beyond the dichotomic goals of a traditional binary model. This guide addresses the general aspects of professional care of trans* minors and presents the current evidence-based protocol of hormonal treatments for trans* and non-binary adolescents. In addition, it details key aspects related to expected body changes and their possible side effects, as well as prior counselling about fertility preservation. (AU)
Asunto(s)
Humanos , Niño , Adolescente , Disforia de Género , Personas Transgénero , Identidad de Género , Servicios de Salud para las Personas Transgénero , Fertilidad/efectos de los fármacosRESUMEN
INTRODUCTION: Hypoparathyroidism (HP) is the most common complication of total thyroidectomy and can be an emergency. OBJECTIVES: To describe the prevalence of HP after total thyroidectomy in children under 14 years of age, the variables related to its appearance and its clinical expression. PATIENTS AND METHODS: Retrospective study at a children's hospital in the last 20 years. HP was defined by the need to supplement calcium after the intervention and was considered permanent if it could not be suspended within 12 months. Fisher's statistical method of comparison of proportions. RESULTS: Thirty-nine children and adolescents (26 females) with an age range of 3.67-14.00 years. In 25 patients, the intervention was prophylactic and in 14 it was therapeutic; 14 suffered accidental excision of some parathyroid gland, but none more than two of them; 12 presented HP, of which 3 were permanent; 5 presented clinical symptoms; 1 of them was an emergency. The frequency of HP was 4/4 when 2 parathyroids were dissected, 2/10 when one was dissected, and 6/25 when none were dissected (pâ¯=â¯0.02). In the prophylactic interventions, it was 6/25 compared to 6/14 in the therapeutic ones (pâ¯=â¯0.29). The three cases of permanent HP were in children under 6 years of age, and it did not occur in any older children (pâ¯=â¯0.09). CONCLUSIONS: HP is a common and sometimes serious complication in children after total thyroidectomy. It can occur, and even be permanent, even if the intervention is prophylactic and parathyroid glands remain in situ. Younger age could be a risk factor.
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Hipocalcemia , Hipoparatiroidismo , Adolescente , Niño , Preescolar , Femenino , Hospitales , Humanos , Hipocalcemia/epidemiología , Hipocalcemia/etiología , Hipoparatiroidismo/diagnóstico , Hipoparatiroidismo/epidemiología , Hipoparatiroidismo/etiología , Estudios Retrospectivos , Tiroidectomía/efectos adversosAsunto(s)
Humanos , Femenino , Adolescente , Síndrome de Gitelman/diagnóstico , Síndrome de Gitelman/genética , Hipopotasemia , PubertadRESUMEN
INTRODUCTION: Hypoparathyroidism (HP) is the most common complication of total thyroidectomy and can be an emergency. OBJECTIVES: To describe the prevalence of HP after total thyroidectomy in children under 14 years of age, the variables related to its appearance and its clinical expression. PATIENTS AND METHODS: Retrospective study at a children's hospital in the last 20 years. HP was defined by the need to supplement calcium after the intervention and was considered permanent if it could not be suspended within 12 months. Fisher's statistical method of comparison of proportions. RESULTS: Thirty-nine children and adolescents (26 females) with an age range of 3.67 to 14.00 years. In 25 patients, the intervention was prophylactic and in 14 it was therapeutic. Fourteen suffered accidental excision of some parathyroid gland, but none more than t2 of them. Twelve presented HP, of which 3 were permanent; 5 presented clinical symptoms; one of them was an emergency. The frequency of HP was 4/4 when 2 parathyroids were dissected, 2/10 when one was dissected, and 6/25 when none were dissected (P=.02). In the prophylactic interventions, it was 6/25 compared to 6/14 in the therapeutic ones (P=.29). The 3 cases of permanent HP were in children under 6 years of age, and it did not occur in any older children (P=.09). CONCLUSIONS: HP is a common and sometimes serious complication in children after total thyroidectomy. It can occur, and even be permanent, even if the intervention is prophylactic and parathyroid glands remain in situ. Younger age could be a risk factor.
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