Adrenocorticotropic Deficiency Research Articles

Abstract #804486: Isolated Adrenocorticotropic Deficiency Due to Primary Empty Sella Causing Secondary Adrenal Insufficiency

Abstract #804486: Isolated Adrenocorticotropic Deficiency Due to Primary Empty Sella Causing Secondary Adrenal Insufficiency

Precocious and Early Central Puberty in Children With Pre-existing Medical Conditions: A Single Center Study.

Background: Precocious and early puberty are reported findings in children with pre-existing medical conditions including certain syndromes. Series pertaining to such situations are limited.Methods: A retrospective, single-center study was conducted on children with central precocious puberty (onset before the age of 8 years in girls and 9 years in boys) or early puberty (onset between 8 and 9 years in girls and between 9 and 10.5 years in boys) diagnosed on the background of a known pre-existing chronic significant medical condition. Patients with a CNS tumor and those exposed to cranial irradiation were excluded.Results: Precocious puberty was diagnosed in 13 patients and early puberty in 12. Mean age at onset of puberty was 6.65 ± 2.3 years in girls (n = 15) and 9.4 ± 0.84 years in boys (n = 10). The most common disorders were psychomotor delay (n = 12), psychiatric disorders (n = 7) and/or epilepsy (n = 5). Precocious or early puberty was among the symptoms experienced by patients with a variety of syndromes including lipofuscinosis (2 siblings), Dravet syndrome and Silver-Russel syndrome. Pituitary stalk interruption with agenesis of olfactory bulbs and optic nerve atrophy was found on imaging in one patient who presented with blindness, epilepsy, and autism spectrum disorder. The other diseases associated with precocious or early puberty are adrenocorticotropic deficiency, dyspraxia and bone abnormalities, glomerulopathy with complete renal failure, and repeated intra-fetal deaths in the mother. Karyotype analysis revealed chromosomal duplication (chromosome 15 in 2 cases; chromosomes 17 and 11 in one case each) in 4 of 8 patients evaluated.Conclusions: Data from patients with complex disease who experience precocious or early puberty may provide clues regarding the genetic determinants of pubertal development.

Kallmann Syndrome with Panhypopituitarism and Uterine Agenesis

We report the case of a female patient of 27 years with no particular family history and who consulted for primary amenorrhea. The clinical examination revealed a female morphotype with eunuchoid appearance. The patient was immature and had anosmia. Laboratory tests: FSH- 0.67mIU/L, LH-0.05mIU/L, Estradiol- 17pg/ml (gonadotropin deficiency), basic cortisol-264.72nmol /L, ACTH-6pg/ml (adrenocorticotropic deficiency), FT4-6.20 pmol/L, TSHus-3.11?IU/L (thyreotropic deficiency), PRL = 4.02ng/ml. The Karyotype was 46XX. The hypothalamic pituitary MRI revealed an agenesis of the olfactory bulbs (Fig.1). An abdominal ultrasound performed to search an associated renal malformation and completed with a pelvic MRI found a uterine agenesis (Fig.2), atrophic ovaries (right ovary-1cm³ and left ovary-2cm³, fig.3 and fig 4 respectively) and a malrotation of a small right kidney (fig.5). Our treatment consisted in a hormonal replacement therapy.

Low plasma bicarbonate level in hyponatremia related to adrenocorticotropin deficiency.

Patients with hyponatremia related to adrenocorticotropic deficiency are not easily distinguished by routine laboratory studies from patients with nonendocrine inappropriate secretion of antidiuretic hormone (SIADH). We wanted to investigate whether, in the routine biological analysis of such patients, some parameters could help to better identify this subgroup of hyponatremic patients. The biochemical profiles of 13 consecutive patients with hyponatremia related to ACTH deficiency were analyzed and compared with 30 consecutive patients with classical SIADH. Patients with adrenocorticotropic deficiency presented low uric acid and urea levels as in nonendocrine SIADH, but their total carbon dioxide was significantly lower (total CO(2), 20.5 +/- 3 vs. 25.5 +/- 2.4 mmol/liter; P < 0.001). Nine of the 13 patients presented a value lower than 22 mmol/liter, although this was not observed in the nonendocrine SIADH patients (P < 0.001). Arterial blood gas analysis was available in eight patients and showed a compensated respiratory alkalosis in most of them (pH 7.42 +/- 0.02; PCO(2), 30 +/- 5 mm Hg; HCO(3)(-), 20 +/- 2 mmol/liter; base excess, -3.4 +/- 1.8 mmol/liter). Aldosterone levels were much lower in ACTH deficiency patients during the hyponatremic state (33 +/- 40 pg/ml) when compared with the nonendocrine SIADH (120 +/- 60 pg/ml; P < 0.01). Correction of hyponatremia by cortisone therapy normalized total CO(2) and aldosterone levels. Low carbon dioxide level is a frequent observation in hyponatremia related to ACTH deficiency and could help to differentiate it from classical SIADH.