Edition 67 - 2018, March / Images

Images in Pediatric Endocrinology: A CHILD WITH SHORT STATURE – Ed. 67

Drs. Mariana Costanzo, and Isabel Di Palma

Servicio de Endocrinología. Hospital de Pediatría Juan. P Garrahan, Buenos Aires, Argentina


Brain MRI showing a hypoplastic sella turcica and anterior pituitary gland (arrow head), ectopic neurohypophysis located at the infundibular recess (arrow). There is a non-significant descent of the cerebellar amygdala through the foramen magnum.  No remarkable findings in the optic chiasma, cortical subarachnoid spaces, basal cisterns and ventricular system.

Clinical case

A 3.5-year-old patient was admitted to the Endocrinology Department because of short stature.

The boy had been born at full-term, with adequate birth weight for gestational age (40 weeks, 3500g). Third child from healthy nonconsanguineous parents. Pregnancy was uneventfull. Neonatal screening tests were normal.

Family history: both parents were healthy and their statures were within the normal reference range for the argentinian population. Mother´s height: 163.8 cm (0.51 SDS) father´s height 170 cm (-0.42 SDS). Target height 173 cm (0.03 SDS). Pubertal milestones were reported normal for both parents (mother, menarche at 13 years, father, doesn´t remember being different from his schoolmates). The first child of the couple died at the age of 2 years secondary to a meduloblastoma tumor. The patient has two healthy brothers (6 and 2 years old) and a little sister (5 months old).

Screening tests requested by the pediatrician were normal (creatinine, complete blood count, etc.). Celiac disease was ruled out.

Physycal examination: Boy with no dysmorphic features, healthy appearance, high-pitched voice. Height: 85 cm (-3.74 SDS), weight 13 kg (-1.32 SDS), Height velocity 4 cm/y (

Normal male external genitalia, both testes were palpable at inguinal positions (bilateral cryptorchidism).

The hormonal profile revealed low basal serum levels of IGF1 and BP3, normal thyroid hormones, normal cortisol and ACTH (table 1). Prolactin and gonadotropin levels were within the normal reference range for age and sex. Skeletal maturation correspond to 1 year of age.

Growth Hormone (GH) deficiency was suspected, and stimulation tests were requested. Results confirm the diagnosis og GH deficiency, GH peak was 1.8 ng/ml (cut-off value 4.8 ng/ml).



GH deficiency was suspected and a brain MRI was requested. Images showed ectopic posterior pituitary and hypoplasia of the anterior pituitary gland.


Proper evaluation of the short child begins with a careful medical history. The possibility of consanguinity, parents’ pubertal timing, as well as the stature of first and second-degree relatives, must be assessed. Birth history should include any detected abnormality of fetal growth and perinatal complications. Information collected pertaining to past illness or symptoms of chronic disease, medication use, nutritional status, and psychosocial and cognitive development should be registered. 

The comprehensive physical examination of the short child include the measures of height, weight, head circumference, and the assessment of the phenotypic characteristics, body proportions, and pubertal staging.

Screening laboratory tests include a complete blood count, erythrocyte sedimentation rate, serum creatinine, electrolytes, bicarbonate, calcium, phosphate, alkaline phosphatase, albumin, TSH, and free T4 and IGF-I levels. Screening for celiac disease is also recommended. An x-ray to evaluate bone age should be carried out, and evaluated by an expert.

In the case reported here, short stature with normal body proportions, normal prenatal growth, low postnatal height velocity, normal routine studies, low serum IGF1 levels and delayed bone age strongly suggested growth hormone deficiency. Functional tests confirmed this deficiency, and pituitary MRI is then mandatory.

Pituitary stalk interruption syndrome (PSIS) is a rare congenital defect, manifesting with varying degrees of pituitary hormone deficiency. The typical MRI findings are a very thin or absent pituitary stalk, an ectopic posterior pituitary and hypoplasia or aplasia of the anterior pituitary gland. The phenotype in the neonatal period includes micropenis, cryptorchidism, hypoglycaemia and jaundice. The most common presentation in childhood is growth retardation.

The frequency of PSIS in patients with hypopituitarism varies among different studies, as well as the frequency of midline and/or other malformations. Most PSIS cases are sporadic but a familial form has been reported.

The aetiology of PSIS remains unknown. The high frequency of perinatal traumatic events is suggestive of an aetiological relationship between perinatal damage and the development of PSIS. Recent studies suggest that molecular defects during early embryogenesis may cause PSIS. Genetic variants implicated in PSIS were reported in genes and pathways involved in pituitary embryogenesis (PROP1, LHX3/LHX4, HESX1, OTX2, PROKR2, TGIF, GPR161, CDON)


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3. Castinetti F, Reynaud R, Quentien MH, Jullien N, Marquant E, Rochette C,Herman JP, Saveanu A, Barlier A, Enjalbert A, Brue T. Combined pituitary hormone deficiency: current and future status. J Endocrinol Invest. 2015 Jan;38(1):1-12.doi: 10.1007/s40618-014-0141-2. Epub 2014 Sep 9. Review. PubMed PMID: 25200994.
4. Wang CZ, Guo LL, Han BY, Su X, Guo QH, Mu YM. Pituitary Stalk Interruption Syndrome: From Clinical Findings to Pathogenesis. J Neuroendocrinol. 2017 Jan;29(1). doi: 10.1111/jne.12451. Review. PubMed PMID: 27917547.

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