Molecular analysis of the CYP21A2 gene in dried blood spot samples.
Medicina, 2020 Fil: Dratler, Gustavo. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P.
Marino, Silvia +6 more
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Nonclassic Congenital Adrenal Hyperplasia (NCCAH) Due to 21-Hydroxylase Deficiency: Clinical Management and Genetic Counseling of Two Portuguese Families [PDF]
, 2016 Introduction: Congenital adrenal hyperplasia (CAH) due to 21-Hydroxylase deficiency occurs in 90-95% of cases, being a common autosomal recessive condition that can present with a wide range of hyperandrogenemic signs in childhood or adulthood ...
Antunes, Diana +4 more
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Atualização em etiologia, diagnóstico e manejo da precocidade sexual [PDF]
, 2008 Precocious puberty is defined as the development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. Gonadotropin-dependent precocious puberty (GDPP) results from the premature activation of the hypothalamic ...
ARNHOLD, Ivo J. P. +3 more
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The Journal of Reproduction and Development, 2019 Unlike sex steroids, mineralocorticoids have attracted limited attention in ovarian physiology. Recent studies on primates have indicated possible local synthesis and action of mineralocorticoids in the ovary.
Memory MUKANGWA +4 more
doaj +1 more source
Understanding the needs of professionals who provide psychosocial care for children and adults with disorders of sex development [PDF]
, 2017 Objective: Disorders in sex development (DSD) can be treated well medically, but families will encounter many psychosocial challenges. Promoting counselling to facilitate acceptance and coping is important yet equality of access is unknown.
Ahmed, S. Faisal +12 more
core +7 more sources
Análisis de variantes génicas en el gen CYP21A2
, 2019 Congenital Adrenal Hyperplasia (CAH) constitutes a series of autosomal recessive disorders in which adrenal steroidogenesis is affected. In 95% of the cases, CAH is caused by 21-hydroxylase deficiency. This deficit can be severe (classical form), with two clinical forms, salt wasting (SW) and simple virilizing (SV), or be mild or non-classical (NC ...
openaire +3 more sources
DIAGNOSIS OF ENDOCRINE DISEASE: Steroid Hormone Analysis in Diagnosis and Treatment of DSD Position Paper of EU COST Action BM 1303 "DSDnet". [PDF]
, 2017 Disorders or differences in sex development (DSD) comprise a heterogeneous group of conditions with an atypical sex development. For optimal diagnosis highly specialized laboratory analyses are required across European countries.
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Sex assignment in conditions affecting sex development [PDF]
, 2017 The newborn infant with atypical genitalia presents a challenging clinical scenario and requires expert input. There have been appreciable advances in our knowledge of the underlying causes that may lead to a mere difference or a more serious disorder of
Ahmed, S. Faisal, Markosyan, Renata
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Egyptian Journal of Medical Human GeneticsBackground 21-hydroxylase deficiency is present in 90–95% of cases of congenital adrenal hyperplasia (CAH). Eleven major pathogenic variants account for 93% of all identified variants in the CYP21A2 gene in various clinical forms of the disease.
Natalia Osinovskaya +8 more
doaj +1 more source
Hiperplasia congénita da supra-renal não clássica (hcsr-nc) por deficiência de 21-hidroxilase: avaliação clínica e aconselhamento genético de duas famílias portuguesas [PDF]
, 2016 Introdução: A hiperplasia congénita da supra renal surge por deficiência de 21-hidroxilase em 90-95% dos casos. É uma das doenças hereditárias de transmissão autossómica recessiva mais frequente.
Antunes, Diana +7 more
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