نتایج جستجو برای: adrenal hypoplasia

تعداد نتایج: 62877  

2013
Jennifer L. Flint Jill D. Jacobson

We report on a patient with genetically confirmed adrenal hypoplasia congenita (AHC) whose presentation and laboratory abnormalities were consistent with the more common condition, congenital adrenal hyperplasia (CAH). The patient presented with failure to thrive and salt wasting. General appearance showed marked hyperpigmentation and normal male genitalia. He displayed mildly elevated 17-hydro...

Journal: :Journal of medical genetics 1970
L Weiss R C Mellinger

Journal: :Hormones 2015
Roberta Minari Alessandra Vottero Francesco Tassi Isabella Viani Tauro Maria Neri Maria Elisabeth Street Lucia Ghizzoni Sergio Bernasconi Davide Martorana

OBJECTIVE Congenital adrenal hypoplasia (CAH) is a rare disorder that can be inherited in an X-linked or autosomal recessive pattern. CAH is frequently associated with hypogonadotropic hypogonadism (HHG) with absent or arrested puberty and impaired fertility caused by abnormalities in spermatogenesis. It is estimated that more than 50% of boys with idiopathic adrenal insufficiency have mutation...

2015
Marta Loureiro Filipa Reis Brígida Robalo Carla Pereira Lurdes Sampaio

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 in...

Journal: :Endocrinology 2005
Gary D Hammer Keith L Parker Bernard P Schimmer

The adrenal glands are comprised of two distinct endocrine organs: the outer cortex, which is derived from mesoderm and synthesizes steroid hormones, and the inner medulla, which contains neuroectodermal cells derived from the neural crest and produces the catecholamine hormones norepinephrine and epinephrine. The developmental program that gives rise to the adrenal gland begins early during em...

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