Abstract


Introduction: There are reports of GH deficiency (GHD) recovering in patients with isolated growth hormone deficiency (IGHD), but do not have any description in patients with congenital hypopituitarism (CH). Objective: To describe 3 patients with CH with at least one reversible hormone deficiency. Methods: Forty six patients with CH (18 women) underwent stimulation test after the end of linear growth. Peak GH > 5ug/L to the insulin tolerance test (ITT) and IGF-1>-2 standard deviations (SD) for age and sex, were considered reversible GHD. view more

Introduction: There are reports of GH deficiency (GHD) recovering in patients with isolated growth hormone deficiency (IGHD), but do not have any description in patients with congenital hypopituitarism (CH). Objective: To describe 3 patients with CH with at least one reversible hormone deficiency. Methods: Forty six patients with CH (18 women) underwent stimulation test after the end of linear growth. Peak GH > 5ug/L to the insulin tolerance test (ITT) and IGF-1>-2 standard deviations (SD) for age and sex, were considered reversible GHD. The others axis were evaluated in all patients with CH over the follow-up. Results: Two patients with GHD presented as transient reversible. The first presented GH, ADH deficiencies and asthma. The diagnoses was done at 2 yrs and 2 mo with height of 73 cm (Z - 4.4), target height (TH) 165cm (Z -1.4), bone age (BA) 6 mo and GH peak as 1.5 and 0.5 g/L in two clonidine tests (CT). Pituitary magnetic resonance imaging (MRI) showed adenohypophysis (AH) of normal dimensions, centered pituitary stalk and non visualized (NV) neurohypophysis (NH). He used GH 0.1U/kg up to 18 yrs (final height 167 cm, -1.2 SD). At 18 yrs presented GH peak of 10.6 ug/L in ITT. The second patient, with GH, TSH and ACTH deficiencies was diagnosed at 8 yrs and 2 mo with the height of 111cm (Z -2.7), TH 166cm (Z -1.2), BA 5 yrs and GH peak to CT and glucagon test as 1.7 and 1.6 g/L, respectively. He used GH 0.1U/kg up to 16 yrs (final height 174 cm, -0.1 SD). At the age of 17, GH peak showed 14.7 g/L in ITT. MRI showed hypoplastic AH (HAH) and NVNH. In the follow up both patients maintained IGF1> -2 SD and no loss of bone mass in the bone mineral density of at least 1.5 yrs, but IGF1 got decreased after 1.5 yrs of follow-up. ITT was repeated, GHD was confirmed and GH treatment was restarted. The 3rd patient presented a completely reversible. A female patient with GLI2 mutations ( c.2353_2368DEL (P.Leu788Serfs*7) presented with GH, TSH , LH/FSH deficiencies with HAH and ectopic NH. She presented spontaneous menarche at 16 yrs but evolved with secondary amenorrhea and low levels of LH/FSH. At 26 yrs she delivered a healthy baby after Intrauterine insemination. Two years later after assisted pregnancy she evolved with regular menses and got spontaneously pregnant. Conclusion: The recovering of at least one hormone in CH is rare but appears to be transient or completely reversible, underscoring the importance of clinical follow-up.

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