21-Hydroxylase Deficiency Presenting as Bilateral Adrenal Masses in a Phenotypically Male but Genetically Female Patient

Case Report

Austin J Endocrinol Diabetes. 2017; 4(1): 1054.

21-Hydroxylase Deficiency Presenting as Bilateral Adrenal Masses in a Phenotypically Male but Genetically Female Patient

Evgenia Panagiotidi¹, Georgios Papadakis¹*, Eleni Triantafillou¹, Paraskevi Manitarou¹, Styliani Kalaitzidou¹, Aggeliki Sapera¹, Victoria Kaltzidou¹, Maria Dracopoulou², Gino Veccini³ and Athanasia Tertipi¹

¹Department of Endocrinology, Metaxa Anticancer Hospital, Greece

²Department of Pediatrics, Athens University Medical School, Greece

³Department of Pathology, Metaxa Anticancer Hospital, Greece

*Corresponding author: Georgios Papadakis, Department of Endocrinology, Metaxa Anti-Cancer Hospital, Piraeus, Greece, Botasi 51, 18537, Pireaus, Athens, Greece

Received: December 01, 2016; Accepted: January 25, 2016; Published: February 02, 2017


A 59-year-old male was investigated for bilateral adrenal masses. At birth he had a phallus and partial fusion of the labioscrotal folds and was raised as male. At puberty he menstruated and underwent multiple operations for the creation of a scrotum and the restoration of hypospadias. The uterus and ovaries were removed and prosthetic testes were placed in the scrotum. He was not receiving any cortisone supplementation. Genetic testing of the 21-hydroxylase gene revealed a compound heterozygoticity for the mutations p.I172N and p.Q318X. Following left adrenalectomy histology revealed a diffusely hyper plastic adrenal cortical zone with regions of myelolipoma transformation. In patients with Congenital Adrenal Hyperplasia there is an increased frequency of adrenal adenomas and myelolipomas related to the chronic stimulation of the adrenal cortex by ACTH and adrenal androgens. Adrenal myelolipomas are benign and biochemically inactive neoplasms. Measurement of17-hydroxyprogesterone in cases of adrenal enlargement can lead to the diagnosis of Congenital Adrenal Hyperplasia.

Keywords: 21-Hydroxylase deficiency; Congenital adrenal hyperplasia; Adrenal myelolipoma


Recently, there have been reported several cases of the classic form of Congenital Adrenal Hyperplasia (CAH) diagnosed in adult life, only after the incidental discovery of adrenal masses on Computed Tomography (CT). Here we report a 59-year-old phenotypically male but genetically female patient with the Simple Virilizing (SV) form of 21-Hydroxylase Deficiency (21-OHD), previously undiagnosed who presented with bilateral adrenal masses, described as myelolipomas on CT.

Methods and Results

A 59 year-old male, followed by the Hematological Department of our Hospital for polycythemia was referred to the Endocrinological Department for the investigation of bilateral adrenal masses found incidentally on abdominal CT. The adrenal masses measured 5 cm on the right and 8 cm on the left adrenal (Figure 1), both with features characteristic for myelolipoma. Family history was not contributory.