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espanolEl tratamiento del panhipopituitarismo implica la sustitucion de cada una de las deficiencias hormonales detectadas en el diagnostico del paciente con patologia hipofisaria o hipotalamica. El tratamiento sustitutivo consiste en la reposicion de hormonas de los organos diana en los casos de deficiencia de corticotropina (ACTH), tirotropina (TSH) y gonadotropinas (hormona luteinizante —LH— y hormona foliculoestimulante —FSH—); unicamente se realizara tratamiento con hormonas hipofisarias para la induccion de fertilidad y en el deficit de hormona del crecimiento (GH). Cuando existe un deficit hormonal multiple, es de vital importancia el orden de la sustitucion terapeutica, siendo el primer eje a sustituir el corticotropo, seguido del tiroideo y posteriormente el gonadal y el somatotropo. El tratamiento generalmente es cronico, siendo imprescindible un correcto seguimiento medico y un ajuste terapeutico en funcion de la clinica y del control hormonal, excepto en el deficit de ACTH en el que el seguimiento es fundamentalmente clinico. EnglishThe treatment of panhypopituitarism involves the hormone replacement of each deficiency diagnosed in the patient with pituitary or hypothalamic pathology. In corticotropin deficiency (ACTH), thyrotropin (TSH) and gonadotropins (luteinizing hormone [LH] and follicle-stimulating hormone [FSH]) replacement therapy consists of hormone replacement of the target organs; treatment with pituitary hormones is only indicated for fertility induction and growth hormone (GH) deficiency. In a multiple hormonal deficit, the order of therapeutic replacement is of vital importance: first corticotrope axis, followed by the thyroid and later the gonadal and somatotropic. Commonly it is a chronic treatment, requiring proper medical follow-up and therapeutic adjustment depending on clinical and hormonal control, except in ACTH deficits, where follow-up is fundamentally clinical.

This article presents an overview of adult growth hormone deficiency (AGHD) and corticotropin deficiency (central adrenal failure, CAI). Both conditions can result from various ailments affecting the hypothalamus or pituitary gland (most frequently a tumor in the area or its treatment). Clinical manifestations are subtle in AGHD but potentially life-threatening in CAI. The diagnosis needs dynamic testing in most cases. Treatment of AGHD is recommended in patients with documented severe deficiency, and treatment of CAI is mandatory in all cases. Despite significant progress in replacement hormonal therapy, more physiologic treatments and more reliable indicators of treatment adequacy are still needed.

International audience; no abstract.

Introduction: Congenital isolated adrenocorticotropic hormone deficiency (CIAD) is a rare disease characterized by low adrenocorticotropic hormone (ACTH) and cortisol levels. To date, recurrent pulmonary infections in infancy have not been reported as an accompanying symptom of CIAD. Case Presentation: A 7-year-old boy was hospitalized nine times for recurrent lower respiratory tract infections. The results of all tests for the possible causes of wheezing were within the normal limits. His ACTH and cortisol levels were persistently low. All other pituitary hormone levels, and adrenal ultrasound and pituitary magnetic resonance imaging results, were normal. Molecular analyses confirmed the diagnosis of CIAD by identifying compound heterozygosity for two mutations in the TBX19 gene. The first was a novel frameshift c.665delG variant in exon 4 of TBX19 gene, leading to premature termination that was predicted to result in a non-functional truncated protein. The second was a nonsense C-to-T transition in exon 6 of the TBX19 gene, resulting in an arg286-to-ter mutation (dbSNP: rs74315376). Both parents were heterozygous for one of the mutations. Conclusions: Here, we presented a new mutation in the TBX19 gene in a patient with CIAD who presented with recurrent respiratory tract infections. This expands the mutation spectrum in this disorder. To conclude, adrenal insufficiency should be considered in patients with unexplained recurrent infections to prevent a delay in diagnosis. Keywords: Adrenal insufficiency; adrenocorticotropic hormone; cortisol; respiratory infections; TBX19 gene

International audience; no abstract.

Adrenal failure secondary to hypothalamic-pituitary disease is a common although underestimated and underdiagnosed condition, with serious consequences. Corticotropin deficiency can be isolated or more frequently occur in association with other pituitary hormones deficiencies. The most frequent endogenous cause of secondary adrenal insufficiency (SAI) is a tumor of the hypothalamic-pituitary region, usually associated with panhypopituitarism secondary to tumor growth or to its treatment with surgery or irradiation. Less commonly, SAI is due to nontumoral disorders including infiltrative lesions, infective processes, vascular alterations, traumatic brain injury, empty sella or genetic disorders. Finally, long-term administration of exogenous glucocorticoids can determine secondary and/or tertiary hypoadrenalism acting at the hypothalamic level and leading to prolonged suppression of the hypothalamic-pituitary-adrenal axis. It is essential to perform validated diagnostic procedures in order to promptly diagnose hypoadrenalism so as to prevent an adrenal crisis. At the same time, diagnosis is complex as no single test has sufficient sensitivity to identify all patients with SAI. Therefore, clinical judgment and follow-up are crucial for the assessment of corticotropin deficiency. Patients with persisting suggestive symptoms and/or a clinical history of higher risk for adrenal insufficiency deserve careful subsequent reassessments.

A 6 year-old Chinese boy with Kabuki syndrome presented with hypoglycemic seizure. He was diagnosed to have isolated adrenocorticotropin deficiency. To our knowledge, this is the first case of Kabuki syndrome with isolated adrenocorticotropin deficiency in the literature.

We describe three critically ill patients who displayed indirect evidence of transient corticotropin deficiency. All these patients were elderly, were poorly nourished, and had unexplained hypotension intraoperatively or immediately postoperatively. During the hypotensive episodes, they had inappropriately low plasma cortisol levels (10, 12, and 6 micrograms/dl) and responded dramatically to the administration of glucocorticoids. A normal response to infusion of synthetic corticotropin excluded primary adrenal insufficiency. Two patients tested had low thyroxine levels without increased thyrotropin concentrations and depressed levels of gonadotropins. In all three patients, the dose of glucocorticoids was successfully tapered and then discontinued. After recovery, serum thyroxine levels increased, gonadotropins reverted to normal concentrations, and the administration of metyrapone to two patients demonstrated normal hypothalamic-pituitary-adrenal function. Cortisol levels of less than 15 micrograms/dl in critically ill patients suggest the presence of adrenal insufficiency. The infusion of synthetic corticotropin may not exclude adrenal insufficiency attributable to corticotropin deficiency. If direct tests of corticotropin reserve are impractical, treatment with glucocorticoids is warranted.

Summary A case is presented of proved deficiency of pituitary adrenocorticotropin with apparently adequate elaboration of pituitary thyrotropic and gonadotropic hormones. In the absence of a method for specific testing, the status of growth hormone elaboration remains obscure.

Excerpt Locations within the central nervous system of centers influencing the metabolism of water and electrolytes have been long recognized (1-5). Consequently, clinical disturbances in solute an...

• A patient with isolated corticotropin deficiency demonstrated hyperresponsiveness of both thyrotropin and prolactin after protirelin stimulation. Following glucocorticoid replacement therapy, responses decreased to normal. Since true primary hypothyroidism may occur in association with cortisol-deficient states, it is necessary to reserve final evaluation until after glucocorticoid replacement. The finding of combined thyrotropin and prolactin hyperresponsiveness to protirelin suggests a related glucocorticoid feedback function. (Arch Intern Med1985;145:356-357)

In Reply .—Drs Morris and Reiter have stated their concern that corticotropin deficiency may have been inadequately documented in a child with Russell-Silver syndrome and hypopituitarism. 1 A prolonged metyrapone test was performed according to the method of Limal et al, 2 in which metyrapone was administered orally every four hours for six doses; serum for cortisol and 11-desoxycortisol measurements was obtained at 8 AM, four hours after the last dose. 2 The postmetyrapone serum 11-desoxycortisol level was 3.3 μg/dL (0.096 μmol/L) in our patient, compared with a range of 12.5 to 28.2 μg/dL (0.363 to 0.819 μmol/L) in control subjects, while the serum cortisol level was 9 μg/dL (250 nmol/L), compared with 1.9 to 6.0 μg/dL (50 to 160 nmol/L). In the face of well-documented growth hormone and thyrotropin deficiencies, the history of recurrent episodes of prostration, and the toleration of all doses of metyrapone, the test was interpreted