ESPE Abstracts (2022) 95 P1-537

ESPE2022 Poster Category 1 Multisystem Endocrine Disorders (24 abstracts)

A case report of Pituitary Stalk Interruption Syndrome caused by novel compound heterozygous mutations in the KATNIP gene

Semra Bahar 1 , Ilker Tolga Ozgen 1 & Bulent Uyanik 2

1Bezmialem University, Faculty of Medicine, Department of Pediatric Endocrinology, Istanbul, Turkey; 2Bezmialem University, Faculty of Medicine, Department of Genetics, Istanbul, Turkey

Introduction: Pituitary stem interruption syndrome (PSIS) is a congenital anomaly of the pituitary gland characterized by the absence or thinness of the pituitary stalk, an ectopic posterior pituitary gland and a hypoplastic or aplastic anterior pituitary gland. Our case is an example of this rare syndrome.

Case: A 12-month-old male patient was referred to us by pediatric urology for micropenis and undescended testis. He was born 3250 gr as term birth by spontaneous vaginal delivery, had a history of hospitalization in the neonatal intensive care unit for 2 days due to jaundice. In the family history; parents were healthy, there was no consanguineous history, the previous pregnancy of the mother was terminated due to anomaly. Anthropometric measurements; his height, weight, head circumference were 67 cm (SDS:-2.08), 10.2 kg (SDS: 0.65), 45 cm (SDS: -0.37) was respectively. In the physical examination; he had frontal bossing, sparse hair. Testicular volumes were 1/1 ml, stretched penile length was 1,5 cm, other system examinations were normal. Laboratory examinations revealed central hypothyroidism, prolactin deficiency, low IGF-1 and IGFBP3 levels (Table 1). After showing low basal cortisol, ACTH stimulation test was performed with 1 mgsynacthen®. Peak cortisol level was 20.3µg/dl, adrenal insufficiency was excluded. In hCG stimulation test, total testosterone level was 3.28 ng/ml dihydrotestosterone level was 330.81 pg/ml, which was normal. GH stimulation tests with L-dopa and glucagon revealed low basal GH levels and reduced GH response (Peak GH of 0,12 ng/ml, 0.55 ng/ml, respectively). Pituitary magnetic resonance imaging was requested from the patient with multiple pituitary hormone disorders. Empty Sella and ectopic neurohypophysis were detected. Genetic analysis was performed. A new mutation KATNİP (NM_0,15202,5) c1461g>A, KATNİP (NM_0,15202,5) c4035delC compound heterozygote was detected. Since the mutation was compatible with Joubert syndrome in genetic database, the patient was followed up in the pediatric neurology department for neurological involvement. The treatment were initiated for central hypothyroidism, micropenis and GH deficiency with l- thyroxin, androstanolone and somatropin.

Table 1: Laboratory findings
Hormonal Tests Patient results (Reference Ranges)
Thyroxine 11,14 (11,4-19,4pmol/L)
TSH 0,96 (0,88-5,42 uIU/ml)
Cortisol: 6,8 (0,54-15,9 µg/dl)
ACTH 9,8 (<46pg/ml)
Prolactin: 0,82 (3,9-31,45ng/ml)
IGF-1 29,7 (0-129 ng/ml SDS (: -2,42)
IGFBP 3 0,673mg/l (SDS: -2,08)

Conclusions: In conclusion, in our case we present a rare case of Joubert syndrome caused by a new mutation in the KATNIP gene, which resulted multiple pituitary hormone deficiency without any neurological finding.

Volume 95

60th Annual ESPE (ESPE 2022)

Rome, Italy
15 Sep 2022 - 17 Sep 2022

European Society for Paediatric Endocrinology 

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