Edition 70 - October 2018 / Images

Images in Pediatric Endocrinology: A CHILD ADMITTED BECAUSE OF SHORT STATURE- Ed. 70

Mariana Costanzo, MD, Isabel Di Palma MD, Cintia A. Morales y Luciana C. Sabbarese

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



LEGEND: Brain nuclear magnetic resonance image showing, in a sagittal section, hypoplasia of the sella turcica and adenohypophysis (arrow head), ectopic pituitary located at the infundibulum (arrow). The image also show a non-significant descent of the cerebellar amygdalae through the foramen magnus. No distrurbance of optic chiasm, cortical subarachnoid spaces or ventricular system.

CLINICAL CASE (Hands and feet edemas)

This patient was admitted to the Endocrine Clinic of Hospital de Pediatria Garrahan, in Buenos Aires, at 2.1 years of age because of a syndromic clinical picture, which included prominent feet and hands edemas (see image B). She had been the first child of non-consanguineous parents who was born by cesarean section because of oligo-amnios and a pathologic ultrasound Doppler. At birth, she had presented hypertelorism, epicanthus, descending palpebral fissures, ogival palate, unfolded ears, short and wide neck, pterigium colli, broad thorax, mammary hypertelorism, and ulna valgus, as well as the already mentioned edemas. She had normal female external genitalia. To discard Turner syndrome, a karyotype was requested. The SRY determination is still pending, but the chromosome analysis was 45,X, confirming the diagnosis of Turner syndrome. During her hospital admission she was submitted to corrective surgery for coarctation and hypoplasia of the aorta. Moreover, a right double renal pelvis-calyx system was detected with ectasia and dilatation, as well as a cerebellar hypoplasia with an image in the posterior fossa that could correspond to a mega-cistern magna or malformation of Dandy Walker, observed in the cerebral ultrasound study.

Presently, she is in good clinical condition (see image A), weight 11.1 kg (-0.38 SDS), height 81.4 cm (-1.79 SDS), with normal neurological development, and showing a characteristic Turner syndrome phenotype (hypertelorism, epicantus, descending palpebral fissures, ogival palate, unfolded ears, short and wide neck, pterigium colli, broad thorax, mammary hypertelorism, valgus ulna, fourth metacarpal short in both hands and important lymphoedema in hands and feet). Laboratory studies followed the clinical practice guidelines for the care of girls with Turner syndrome (1): hemogram, renal function, phosphocalcic metabolism and normal thyroid profile, for age. High values ​​of gonadotrophins (LH 27 uUI/ml and FSH> 200 uUI/ml) were detected, for a reference range for sex and age of 0.03 ± 0.03 and 2.16 ± 1.14 mIU / ml respectively), and serum AMH was not detectable.

The patient is in multidisciplinary follow-up in the Services of Cardiology, Endocrinology, Nephrology, and Otorhinolaryngology of the Hospital.


Turner syndrome is one of the most frequent human genetic syndromes, which occurs in the event of total or partial loss of one of the sex chromosomes, in an individual with a female phenotype. In 50% of the patients the karyotype shows a 45,X pattern, while in the rest you can find variants that include moisaicisms with the presence of line X or Y, with or without structural anomalies (45,X/46,XX  or  XY,  46,XiXq,  46,XdelXp,  46,rX). It affects between 1/2000 a 1/3000 newborn girls. The clinical phenotype is variable and may be subtle. The most frequent signs of presentation are short stature in pre-adolescence and primary amenorrhea in adolescence. Other characteristics of variable appearance are: congenital lymphedema of hands and feet, pterigium colli, facial dysmorphisms (epicanthus, descending palpebral fissure, low implant of ears, micrognathia), skeletal malformations (cubitus valgus, short fourth metacarpal, Madelung malformation, scoliosis), multiple nevi, congenital heart disease, renal pathology, thyroiditis, otopathy, celiac disease, gonadal dysgenesis, behavioral and learning disorders (1). Congenital lymphoedema of the hands and feet, present in 25-60% of patients, is a key indicator in the diagnosis, although it has been infrequently described in the literature (1, 2, 3). It is believed that many of the characteristics of the syndrome are due to intra-uterine lymphedema, such as pterigium colli, among others. Lympho-scintigraphy is the gold standard for diagnosis. With this technique, hypoplasia or aplasia of lymphatic tracts can be observed, or initial lymphatic functional failures that lead to stasis of lymph and edema (2, 4). The literature reports a higher frequency of lymphedema in patients with 45, X karyotype.

In most cases, this sign resolves spontaneously towards 2 years of age although it may persist and/or recur. A variable time of 8.5 to 40 years has been reported between initial resolution and recurrence (2), possibly in relation to treatments that are accompanied by hydro saline retention, such as estrogen therapy (1). In addition to lymphedema, this patient also has multiple features and malformations associated with Turner’s syndrome that led to early diagnosis. Ovarian failure may not be detected in prepubertal girls due to the inactivity of the hypothalamo-hypofiso-gonadal axis. In this girl, elevated gonadotrophins at the age of 2 years could be explained by the persistence of the postnatal activation of this axis, which helps to predict a risk for future ovarian failure.


  1. Claus H. Gravholt et al: Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. European Journal of Endocrinology (2017), 177(3), G1–G70.
  2. Giles Atton et al. The lymphatic phenotype in Turner syndrome: an evaluation of nineteen patients and literature review. European Journal of Human Genetics (2015), 23, 1634–1639
  3. Daniel F. Gunther y Virginia P. Sybert. Lymphatic, tooth and skin manifestations in Turner syndrome. International Congress Series (2006), 1298, 58–62
  4. Bellini C et al. The role of lymphoscintigraphy in the diagnosis of lymphedema in Turner syndrome. Lymphology (2009), 42(3), 123-9.

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