ACTH deficiency, isolated

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ACTH deficiency, isolated

A congenital condition (OMIM:201400) characterised by severe hypoglycaemia in the neonatal period, seizures in about half of cases, prolonged cholestatic jaundice, and very low plasma ACTH levels with no significant response to CRH.
 
Molecular pathology
Defects of TBX19, which encodes a T-box DNA-binding transcription regulator of development that activates POMC gene expression, are a cause of isolated ACTH deficiency.
References in periodicals archive ?
The diagnosis of IAD can be challenging as the only clinical sign may be an intermittent cough or poor performance with minimal respiratory signs.
The purpose of this practice improvement project was to implement an evidence-based intervention bundle for IAD and evaluate its impact on the identification, prevention, and management of IAD in hospitalized adults.
Patton's EFM VoIP IADs benefit carrier-providers and small- to-medium enterprises by enabling fast, low-cost provisioning of reliable IP communication services delivered over the ubiquitous copper-wire network-access infrastructure already in the ground.
Available in either 3 POTS + 1 ADSL or 6 POTS + 1 ADSL configurations, the line-powered PG-FlexPlus Edge IAD enables carriers to quickly and cost-effectively satisfy the demands of premium residential and small business customers for multiple voice lines plus high-speed Internet access.
Ordinarily, if the power fails at the customer premises, the IAD or MTA ceases to function and is no longer able to process the incoming Voice over Broadband packetized voice.
While pioneering IAD developments throughout Europe, Euronet is positioning to become the catalyst in consolidating banks' off-site ATM networks to a shared-network model whereby the savings from leveraged assets are passed on to banks and their customers.
Offsetting the moderate airline concentration risk is the strong origination and destination (O&D) profile of traffic at both IAD (67%) and DCA (87%), favorable demographic trends within the service areas of both airports, and an overall competitive cost and debt profile.
Under a stress case where IAD would lose its hub status and experience a 75% decline in connecting enplanements and where DCA would experience no traffic growth, CPE would increase to approximately $37 at IAD and $16 at DCA.
Along with the P-2302R VoIP Gateway and the P-2602HW IAD, ZyXEL is showcasing the following VoIP products at VON: the Prestige 2000W VoIP Wi-Fi phone, the Prestige 2002 Analog Telephone Adapter (ATA) and the Prestige 5000W video phone.
IAD and VoIP gateways, which are crucial components of any IP-based broadband voice or video network deployment, sit at the customer premises and deliver integrated voice, video, and data services over a single broadband IP connection.
He added that the interest in the EdgeLink OTM1000 is also driving demand for the EdgeLink Hub and EdgeLink200 IAD as a cost-effective and reliable service delivery solution.