Neonatal adrenal insufficiency – beyond the common causes

Background: Primary adrenal insufficiency (PAI) can be caused by multiple etiologies. One of the rarest is X-linked adrenal hypoplasia congenita (AHC), a disorder of adrenal development that results from mutations in the NR0B1/DAX1 gene and in which half of the affected males present with salt loss...

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Autores principales:	Inês Pires Duro, Sara Mosca, Graça Araújo, Joana Lorenzo, Catarina Figueiredo, Joana Freitas, Maria João Oliveira, Teresa Borges
Formato:	article
Lenguaje:	EN IT
Publicado:	Hygeia Press di Corridori Marinella 2021
Materias:	primary adrenal insufficiency neonatal adrenal insufficiency x-linked adrenal hypoplasia congenita hypogonadotropic hypogonadism Medicine R Pediatrics RJ1-570
Acceso en línea:	https://doaj.org/article/573dbcba2fe34ac090224d4b888d92e7
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spelling	oai:doaj.org-article:573dbcba2fe34ac090224d4b888d92e72021-11-26T15:58:52ZNeonatal adrenal insufficiency – beyond the common causes2281-069210.7363/110108https://doaj.org/article/573dbcba2fe34ac090224d4b888d92e72021-11-01T00:00:00Zhttps://jpnim.com/index.php/jpnim/article/view/1098https://doaj.org/toc/2281-0692Background: Primary adrenal insufficiency (PAI) can be caused by multiple etiologies. One of the rarest is X-linked adrenal hypoplasia congenita (AHC), a disorder of adrenal development that results from mutations in the NR0B1/DAX1 gene and in which half of the affected males present with salt loss and glucocorticoid insufficiency at birth or in early infancy. In adolescence, hypogonadotropic hypogonadism with absent or arrested pubertal development occurs. Pharmacological intervention is mandatory. Case presentation/discussion: We report 2 male brothers that presented in early infancy with a salt-wasting crisis. Congenital adrenal hyperplasia (CAH) was the presumptive diagnosis, and treatment was instituted accordingly. However, 17-hydroxyprogesterone levels were normal, requiring the search for alternative causes of adrenal insufficiency. In case 2, treatment was discontinued, and he lost follow-up, but he remained well. When he was evaluated due to generalized skin hyperpigmentation, the association of PAI in 2 male brothers raised the suspicion of X-linked AHC and allowed the definitive diagnosis. Conclusions: These 2 cases highlight the importance of a high index of suspicion when facing a male newborn with PAI in which CAH was excluded in order to allow appropriate management. Despite similar initial presentations and carrying the same mutation, these brothers had different clinical courses, which emphasizes the phenotypic heterogeneity and inherent genotype-phenotype correlation difficulties of X-linked AHC. Careful monitoring and regular follow-up should be warranted, due to phenotypic characteristics that can appear in later stages and may benefit from therapeutic interventions, such as delayed/precocious puberty. Genetic counseling is essential in order to detect female heterozygotes and offer prenatal testing.Inês Pires DuroSara MoscaGraça AraújoJoana LorenzoCatarina FigueiredoJoana FreitasMaria João OliveiraTeresa BorgesHygeia Press di Corridori Marinellaarticleprimary adrenal insufficiencyneonatal adrenal insufficiencyx-linked adrenal hypoplasia congenitahypogonadotropic hypogonadismMedicineRPediatricsRJ1-570ENITJournal of Pediatric and Neonatal Individualized Medicine, Vol 11, Iss 1, Pp e110108-e110108 (2021)
institution	DOAJ
collection	DOAJ
language	EN IT
topic	primary adrenal insufficiency neonatal adrenal insufficiency x-linked adrenal hypoplasia congenita hypogonadotropic hypogonadism Medicine R Pediatrics RJ1-570
spellingShingle	primary adrenal insufficiency neonatal adrenal insufficiency x-linked adrenal hypoplasia congenita hypogonadotropic hypogonadism Medicine R Pediatrics RJ1-570 Inês Pires Duro Sara Mosca Graça Araújo Joana Lorenzo Catarina Figueiredo Joana Freitas Maria João Oliveira Teresa Borges Neonatal adrenal insufficiency – beyond the common causes
description	Background: Primary adrenal insufficiency (PAI) can be caused by multiple etiologies. One of the rarest is X-linked adrenal hypoplasia congenita (AHC), a disorder of adrenal development that results from mutations in the NR0B1/DAX1 gene and in which half of the affected males present with salt loss and glucocorticoid insufficiency at birth or in early infancy. In adolescence, hypogonadotropic hypogonadism with absent or arrested pubertal development occurs. Pharmacological intervention is mandatory. Case presentation/discussion: We report 2 male brothers that presented in early infancy with a salt-wasting crisis. Congenital adrenal hyperplasia (CAH) was the presumptive diagnosis, and treatment was instituted accordingly. However, 17-hydroxyprogesterone levels were normal, requiring the search for alternative causes of adrenal insufficiency. In case 2, treatment was discontinued, and he lost follow-up, but he remained well. When he was evaluated due to generalized skin hyperpigmentation, the association of PAI in 2 male brothers raised the suspicion of X-linked AHC and allowed the definitive diagnosis. Conclusions: These 2 cases highlight the importance of a high index of suspicion when facing a male newborn with PAI in which CAH was excluded in order to allow appropriate management. Despite similar initial presentations and carrying the same mutation, these brothers had different clinical courses, which emphasizes the phenotypic heterogeneity and inherent genotype-phenotype correlation difficulties of X-linked AHC. Careful monitoring and regular follow-up should be warranted, due to phenotypic characteristics that can appear in later stages and may benefit from therapeutic interventions, such as delayed/precocious puberty. Genetic counseling is essential in order to detect female heterozygotes and offer prenatal testing.
format	article
author	Inês Pires Duro Sara Mosca Graça Araújo Joana Lorenzo Catarina Figueiredo Joana Freitas Maria João Oliveira Teresa Borges
author_facet	Inês Pires Duro Sara Mosca Graça Araújo Joana Lorenzo Catarina Figueiredo Joana Freitas Maria João Oliveira Teresa Borges
author_sort	Inês Pires Duro
title	Neonatal adrenal insufficiency – beyond the common causes
title_short	Neonatal adrenal insufficiency – beyond the common causes
title_full	Neonatal adrenal insufficiency – beyond the common causes
title_fullStr	Neonatal adrenal insufficiency – beyond the common causes
title_full_unstemmed	Neonatal adrenal insufficiency – beyond the common causes
title_sort	neonatal adrenal insufficiency – beyond the common causes
publisher	Hygeia Press di Corridori Marinella
publishDate	2021
url	https://doaj.org/article/573dbcba2fe34ac090224d4b888d92e7
work_keys_str_mv	AT inespiresduro neonataladrenalinsufficiencybeyondthecommoncauses AT saramosca neonataladrenalinsufficiencybeyondthecommoncauses AT gracaaraujo neonataladrenalinsufficiencybeyondthecommoncauses AT joanalorenzo neonataladrenalinsufficiencybeyondthecommoncauses AT catarinafigueiredo neonataladrenalinsufficiencybeyondthecommoncauses AT joanafreitas neonataladrenalinsufficiencybeyondthecommoncauses AT mariajoaooliveira neonataladrenalinsufficiencybeyondthecommoncauses AT teresaborges neonataladrenalinsufficiencybeyondthecommoncauses
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Neonatal adrenal insufficiency – beyond the common causes

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