Akademik Veri Yönetim Sistemi
1.Ege Endocrinology and Genetic Symposium, İstanbul, Türkiye, 25 - 27 Şubat 2015, cilt.7, sa.56, ss.81
Multiple pituitary hormone deficiency (MPHD) due to the
absence of pituitary transcription factors is associated with
growth hormone (GH) deficiency in addition to at least one
of the deficiencies of adrenocorticotropic hormone (ACTH),
luteinizing hormone, follicle-stimulating hormone, thyroidstimulating hormone (TSH), and/or prolactin (PRL). Its
prevalence is 1/7000-1/10000. The aim of our presentation
of the case with MPHD is to emphasize the clinical
examination and hormonal findings, follow-up of radiologicalclinical findings, and importance of early diagnosis and
treatment. A 9-month-old male patient presented to
outpatient clinics with the symptom of constipation for
the last 1.5 months and diagnosed with hypothyroidism
was referred to our clinic for further evaluation. Mother
and father were consanguineous, first-degree cousins. At
presentation, his weight was 5700 gram [-3.6 standard
deviation score (SDS)], height 61.8 cm (-3.5 SDS), bone age
compatible with 2 months of age. On physical evaluation,
pale skin, edematous eye lids, coarse face, macroglossia,
motor retardation, hypotonicity, abdominal distention,
umbilical hernia, and hepatomegaly were noted; his cry
was hoarse. The patient was pre-pubertal. Laboratory
examination revealed anemia, elevated liver enzymes,
hyperlipidemia, and central hypothyroidism. TSH response
to thyrotropin-releasing hormone stimulation was blunted.
Cortisol and PRL levels were normal, partial GH deficiency
was detected. On cranial and pituitary magnetic resonance
imaging examination, pituitary hyperplasia was determined.
On L-thyroxin treatment, clinical findings of hypothyroidism
and pituitary hyperplasia regressed. Clinical and laboratory
findings suggested PROP1 gene defect. However, no
mutation was found in the PROP1 gene. No POU1F1, LHX3
and HESX1 gene mutations were detected either. During
follow-up, growth velocity decreased around 12 years of
age. Repeated stimulation tests were compatible with GH
deficiency and GH treatment was started. PRL and ACTH
deficiencies did not develop and spontaneous puberty
started at 12 years and 4 months of age. At his last visit,
he was 14 years and 4 months old, his weight was 51.3
kg (-0.4 SDS), his height was 150.9 cm (-1.7 SDS) with
progression of puberty. Genetic analysis should be done in
patients with congenital MPHD to diagnose the hormone
deficiencies and to start treatment if necessary