International Journal of Celiac Disease, 2016, Vol. 4, No. 4, 146-149
Available online at http://pubs.sciepub.com/ijcd/4/4/11
©Science and Education Publishing
DOI:10.12691/ijcd-4-4-11
A 21-year-old Man with Delayed Puberty
Ketabimoghaddam Pardis
1
, Dadvar Zohreh
2,*
, Salehi Babak
3
, Aletaha Najmeh
2
, Allameh Seyed Farshad
2
,
Hassanpour Akbar
1
, Talayi M.A
3
1
Arak university of medical sciences, Internal medicine department
2
Tehran university of medical sciences,gastrointestinal department
3
Shahid Beheshty university of medical sciences, gastrointestinal department
Tehran University of Medical Sciences, Iran
*Corresponding author: zohrehdadvar.zd@gmail.com
Abstract Delayed puberty is defined clinically by the absence or incomplete development of secondary sexual
characteristics bounded by an age at which 95 percent of children of that sex and culture have initiated sexual
maturation. The upper 95th percentile in the United States for age for boys is 14 (an increase in testicular size being
the first sign) and for girls is 12 (breast development being the first sign). Delayed puberty pathophysiologically is
classified according to the circulating levels of the gonadotropins luteinizing hormone (LH) and follicle-stimulating
hormone (FSH) in to two groups of high serum LH/FSH and low or normal serum LH/FSH concentrations which
are related to primary hypogonadism and hypothalamic dysfunction respectively. Patient Presentation. A 21 year
old boy presented with severe respiratory distress syndrome due to pneumonia and generalized edema. Laboratory
studies showed pancytopenia which made clinicians work up for hematologic disorders, leading to bone marrow
aspiration and biopsy which was consistent with megaloblastic anemia resulting from vit B12 deficiency. Another
manifestation of this patient was delayed puberty which had been ignored over these years. Evaluation of delayed
puberty revealed a low serum LH/FSH concentration. Accompaniment of delayed puberty resulting from
hypothalamic origin with edema and hypoalbuminemia made clinicians work up for a malabsorption syndrome.
Therefore upper endoscopy and colonoscopy were done and duodenal biopsies were consistent with celiac sprue.
The unusual symptom of this patient was vit B12 deficiency which is rare in celiac disease. Conclusion. Neglected
celiac sprue can be accompanied by vit B12 deficiency probably because of involvement of more distal parts of
small intestine over the time.
Keywords: delayed puberty, hematologic changes, celiac disease
Cite This Article: Ketabimoghaddam Pardis, and Dadvar Zohreh, Salehi Babak, Aletaha Najmeh, Allameh
Seyed Farshad, Hassanpour Akbar, Talayi M.A, “A 21-year-old Man with Delayed Puberty.” International
Journal of Celiac Disease, vol. 4, no. 4 (2016): 146-149. doi: 10.12691/ijcd-4-4-11.
1. Introduction
The patient was admitted in Arak Amir-Al-Momenin
Hospital because of fever & chills, progressive dyspnea on
exertion followed by orthopnea, paroxysmal nocturnal
dyspnea, cough and black sputum during the past week
and a progressive edema leading to generalized edema in
recent year. He was born in the suburb of Arak city (one
of the cities of Iran), in a low socioeconomic family,
living with his mother, father and smaller brother. His
childhood was spent with mild intermittent diarrhea (Soft
stool sometimes watery but not bloody or fatty, without
response to fasting, without significant abdominal pain),
loss of appetite and failure to thrive. His immunization
was complete. His adolescence was associated with
delayed puberty, short stature and poor presentation at
school. He was jobless, without any addiction to illicit
drugs, alcohol and cigarettes. There wasn't any special
disease or similar problem in his first degree relatives. No
special environmental and occupational exposure was
detected. Reported condition didn't make him demand a
consult with healthcare units until he was encountered a
progressive edema starting from lower limbs accompanied
by scrotal, sacral, abdominal wall and periorbital edema
during recent year with severe exacerbation in recent
months and finally fever & chills and progressive dyspnea
on exertion followed by orthopnea, paroxysmal nocturnal
dyspnea, cough and sputum since the past week which
took him to the emergency room. On the admission day,
he was ill and cachectic, with pale conjunctiva, periorbital
edema and severe exhaust. His vital signs were: Blood
Pressure =125/85 mmhg, Body Temperature = 39.5oc,
Pulse Rate = 140, Respiratory Rate = 34. Heart sounds
were normal but tachycardia was detected. In lung
auscultation there was a decrease in breath sound in the
basis of the two lungs predominantly in the right side.
Chest X Ray showed bilateral pleural effusion which was
predominant in the right side. Abdominal examination
showed positive shifting dullness test and abdominal wall
edema without any tenderness and organomegaly. Deep
and broad edema was detected in both lower limbs, distal
pulses were bilaterally symmetric but were weaker than
normal because of severity of edema. Scrotal examination
revealed scrotal edema and small testicles. No axillary and