Genetic analysis of adrenal absence: agenesis and aplasia.

نویسندگان

  • Tobias Else
  • Gary D Hammer
چکیده

The adrenal cortex shares a common embryological heritage with the gonad and kidney: all are derived from components of the urogenital ridge. Adrenocortical specification from this embryonic structure and the ultimate organogenesis of the adrenal gland are directed by the sequential expression of transcriptional regulators, with later development being additionally mediated by endocrine hormones that regulate organ maintenance and tissue differentiation. Recent advancements in the field of human and mouse genetics have accumulated evidence for a host of novel factors involved in these processes, such as the hedgehog signaling network and peptides derived from proopiomelanocortin.

برای دانلود رایگان متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Aplasia cutis congenita: a case report

Aplasia cutis congenita is the congenital absence of skin mostcommonly affecting the scalp. No definite etiology is available butmultiple causes such as intrauterine infection, fetal exposure tococaine, heroin, alcohol or antithyroid drugs, vascular disruption,genetic causes, syndromes and teratogens have been suggested.We present an infant with extensive aplasia cutis of the trunk andthigh. He...

متن کامل

MURCS Association with Partial Duplication of the Distal Long Chromosome 5 and Unilateral Ovarian Agenesis

A combination of the congenital abnormalities, Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia, is defined as the MURCS association. Various genetic defects have been described in the MURCS association so far, yet the unambiguous molecular basis of these disorders has not been established. We report the case of an 18-year-old woman who presented with primary amenorrh...

متن کامل

MURCS (Müllerian duct aplasia–renal agenesis–cervicothoracic somite dysplasia): a rare cause of primary amenorrhoea

The agenesis of the Müllerian duct is the second most common cause of primary amenorrhoea after Turner syndrome. The abnormal development of Müllerian duct often associates with the urinary tract and skeletal abnormalities. MURCS (Müllerian duct aplasia-renal agenesis-cervicothoracic somite dysplasia) association is a unique and rare developmental disorder with four common features of uterine h...

متن کامل

Agenesis of the lung--a rare congenital anomaly of the lung.

Pulmonary agenesis is a very rare condition and many of them are associated with a variety of cardiac and non-cardiac malformations. We report an eight-month old girl with chronic lung infection due to right sided pulmonary agenesis without any associated major cardiac or non-cardiac abnormalities. The case brings in forth the importance of investigating any infant presenting with features of c...

متن کامل

Aplasia and Agenesis of the Frontal Sinus in Turkish Individuals: A Retrospective Study Using Dental Volumetric Tomography

Agenesis of the paranasal sinuses is an uncommon clinical condition that appears mainly in the frontal (12%) and maxillary (5-6%) sinuses; in some populations, it appears at a higher proportion. This study investigated the prevalence of agenesis of the frontal sinuses using dental volumetric tomography (DVT) in Turkish individuals. The frontal sinuses of 410 patients were examined by DVT scans ...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

عنوان ژورنال:
  • Trends in endocrinology and metabolism: TEM

دوره 16 10  شماره 

صفحات  -

تاریخ انتشار 2005